UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
dbSNP Id:
rs386744416
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.60043233_60043234delinsTG , CM000672.2:g.60043233_60043234delinsTG | GRCh38 |
| NC_000010.10:g.61802991_61802992delinsTG , CM000672.1:g.61802991_61802992delinsTG | GRCh37 |
| NC_000010.9:g.61472997_61472998delinsTG | NCBI36 |
| NG_029917.1:g.695293_695294delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000467420.7:c.5311-475_5311-474delinsCA | ENSP00000423968.2:n.5311-475_5311-474delinsCA | |
| ENST00000503366.6:c.5539-475_5539-474delinsCA | ENSP00000425236.1:n.5539-475_5539-474delinsCA | |
| ENST00000280772.7:c.13066-475_13066-474delinsCA MANE Select | ENSP00000280772.1:n.13066-475_13066-474delinsCA | |
| ENST00000280772.6:c.13066-475_13066-474delinsCA | ENSP00000280772.1:n.13066-475_13066-474delinsCA | |
| ENST00000355288.6:c.2938-475_2938-474delinsCA | ENSP00000347436.2:n.2938-475_2938-474delinsCA | |
| ENST00000373820.5:c.1312-475_1312-474delinsCA | ENSP00000362926.1:n.1312-475_1312-474delinsCA | |
| ENST00000373827.6:c.5518-475_5518-474delinsCA | ENSP00000362933.2:n.5518-475_5518-474delinsCA | |
| ENST00000480699.5:n.275-475_275-474delinsCA | ||
| ENST00000489505.2:n.1570_1571delinsCA | ||
| ENST00000502769.5:c.433-475_433-474delinsCA | ENSP00000423057.1:n.433-475_433-474delinsCA | |
| ENST00000503366.5:c.5539-475_5539-474delinsCA | ENSP00000425236.1:n.5539-475_5539-474delinsCA | |
| ENST00000610321.4:c.4862-475_4862-474delinsCA | ||
| ENST00000612776.4:c.471-478_471-477delinsCA | ||
| ENST00000616444.4:c.2852-475_2852-474delinsCA | ||
| ENST00000617800.4:c.458-475_458-474delinsCA | ||
| ENST00000618374.4:c.*501-475_*501-474delinsCA | ENSP00000479018.1:n.*501-475_*501-474delinsCA | |
| NM_001149.3:c.2938-475_2938-474delinsCA | NP_001140.2:n.2938-475_2938-474delinsCA | |
| NM_001204403.1:c.5518-475_5518-474delinsCA | NP_001191332.1:n.5518-475_5518-474delinsCA | |
| NM_001204404.1:c.5539-475_5539-474delinsCA | NP_001191333.1:n.5539-475_5539-474delinsCA | |
| NM_020987.3:c.13066-475_13066-474delinsCA | NP_066267.2:n.13066-475_13066-474delinsCA | |
| XM_005269715.2:c.5590-475_5590-474delinsCA | XP_005269772.1:n.5590-475_5590-474delinsCA | |
| XM_005269716.2:c.5536-475_5536-474delinsCA | XP_005269773.1:n.5536-475_5536-474delinsCA | |
| XM_006717791.2:c.8494-478_8494-477delinsCA | XP_006717854.1:n.8494-478_8494-477delinsCA | |
| XM_006717793.2:c.8434-475_8434-474delinsCA | XP_006717856.1:n.8434-475_8434-474delinsCA | |
| XM_006717795.2:c.8263-478_8263-477delinsCA | XP_006717858.1:n.8263-478_8263-477delinsCA | |
| XM_006717796.2:c.8212-478_8212-477delinsCA | XP_006717859.1:n.8212-478_8212-477delinsCA | |
| XM_006717802.2:c.5629-475_5629-474delinsCA | XP_006717865.1:n.5629-475_5629-474delinsCA | |
| XM_011539700.1:c.8482-475_8482-474delinsCA | XP_011538002.1:n.8482-475_8482-474delinsCA | |
| XM_011539701.1:c.8476-475_8476-474delinsCA | XP_011538003.1:n.8476-475_8476-474delinsCA | |
| XM_011539702.1:c.8437-475_8437-474delinsCA | XP_011538004.1:n.8437-475_8437-474delinsCA | |
| XM_011539703.1:c.8416-475_8416-474delinsCA | XP_011538005.1:n.8416-475_8416-474delinsCA | |
| XM_011539704.1:c.8395-475_8395-474delinsCA | XP_011538006.1:n.8395-475_8395-474delinsCA | |
| XM_011539705.1:c.8395-475_8395-474delinsCA | XP_011538007.1:n.8395-475_8395-474delinsCA | |
| XM_011539706.1:c.8383-475_8383-474delinsCA | XP_011538008.1:n.8383-475_8383-474delinsCA | |
| XM_011539707.1:c.8263-475_8263-474delinsCA | XP_011538009.1:n.8263-475_8263-474delinsCA | |
| XM_011539708.1:c.8212-475_8212-474delinsCA | XP_011538010.1:n.8212-475_8212-474delinsCA | |
| XM_011539709.1:c.7903-475_7903-474delinsCA | XP_011538011.1:n.7903-475_7903-474delinsCA | |
| XM_011539710.1:c.5911-475_5911-474delinsCA | XP_011538012.1:n.5911-475_5911-474delinsCA | |
| XM_011539711.1:c.5884-475_5884-474delinsCA | XP_011538013.1:n.5884-475_5884-474delinsCA | |
| XM_011539712.1:c.5875-475_5875-474delinsCA | XP_011538014.1:n.5875-475_5875-474delinsCA | |
| XM_011539713.1:c.5848-475_5848-474delinsCA | XP_011538015.1:n.5848-475_5848-474delinsCA | |
| XM_011539714.1:c.5842-475_5842-474delinsCA | XP_011538016.1:n.5842-475_5842-474delinsCA | |
| XM_011539715.1:c.5830-475_5830-474delinsCA | XP_011538017.1:n.5830-475_5830-474delinsCA | |
| XM_011539716.1:c.5704-475_5704-474delinsCA | XP_011538018.1:n.5704-475_5704-474delinsCA | |
| XM_011539717.1:c.5563-475_5563-474delinsCA | XP_011538019.1:n.5563-475_5563-474delinsCA | |
| XM_011539718.1:c.5446-475_5446-474delinsCA | XP_011538020.1:n.5446-475_5446-474delinsCA | |
| NM_001320874.1:c.5536-475_5536-474delinsCA | NP_001307803.1:n.5536-475_5536-474delinsCA | |
| NM_020987.4:c.13066-475_13066-474delinsCA | NP_066267.2:n.13066-475_13066-474delinsCA | |
| XM_005269715.3:c.5590-475_5590-474delinsCA | XP_005269772.1:n.5590-475_5590-474delinsCA | |
| XM_006717796.3:c.8212-478_8212-477delinsCA | XP_006717859.1:n.8212-478_8212-477delinsCA | |
| XM_006717802.3:c.5629-475_5629-474delinsCA | XP_006717865.1:n.5629-475_5629-474delinsCA | |
| XM_011539708.2:c.8212-475_8212-474delinsCA | XP_011538010.1:n.8212-475_8212-474delinsCA | |
| XM_011539709.2:c.7903-475_7903-474delinsCA | XP_011538011.1:n.7903-475_7903-474delinsCA | |
| XM_017016110.1:c.13447-475_13447-474delinsCA | XP_016871599.1:n.13447-475_13447-474delinsCA | |
| XM_017016111.1:c.13435-475_13435-474delinsCA | XP_016871600.1:n.13435-475_13435-474delinsCA | |
| XM_017016112.1:c.13432-475_13432-474delinsCA | XP_016871601.1:n.13432-475_13432-474delinsCA | |
| XM_017016113.1:c.13420-475_13420-474delinsCA | XP_016871602.1:n.13420-475_13420-474delinsCA | |
| XM_017016114.1:c.13396-475_13396-474delinsCA | XP_016871603.1:n.13396-475_13396-474delinsCA | |
| XM_017016115.1:c.13369-475_13369-474delinsCA | XP_016871604.1:n.13369-475_13369-474delinsCA | |
| XM_017016116.1:c.13138-475_13138-474delinsCA | XP_016871605.1:n.13138-475_13138-474delinsCA | |
| XM_017016117.1:c.13138-478_13138-477delinsCA | XP_016871606.1:n.13138-478_13138-477delinsCA | |
| XM_017016118.1:c.12106-475_12106-474delinsCA | XP_016871607.1:n.12106-475_12106-474delinsCA | |
| XM_017016119.1:c.11797-475_11797-474delinsCA | XP_016871608.1:n.11797-475_11797-474delinsCA | |
| XM_017016120.1:c.11797-478_11797-477delinsCA | XP_016871609.1:n.11797-478_11797-477delinsCA | |
| XM_017016121.1:c.11770-475_11770-474delinsCA | XP_016871610.1:n.11770-475_11770-474delinsCA | |
| XM_017016122.1:c.8119-475_8119-474delinsCA | XP_016871611.1:n.8119-475_8119-474delinsCA | |
| XM_017016123.1:c.7903-478_7903-477delinsCA | XP_016871612.1:n.7903-478_7903-477delinsCA | |
| XM_017016124.1:c.7876-475_7876-474delinsCA | XP_016871613.1:n.7876-475_7876-474delinsCA | |
| XM_017016125.1:c.7876-478_7876-477delinsCA | XP_016871614.1:n.7876-478_7876-477delinsCA | |
| XM_017016126.1:c.7771-475_7771-474delinsCA | XP_016871615.1:n.7771-475_7771-474delinsCA | |
| XM_017016127.1:c.7744-475_7744-474delinsCA | XP_016871616.1:n.7744-475_7744-474delinsCA | |
| XM_017016128.1:c.5602-475_5602-474delinsCA | XP_016871617.1:n.5602-475_5602-474delinsCA | |
| XM_017016129.1:c.5602-478_5602-477delinsCA | XP_016871618.1:n.5602-478_5602-477delinsCA | |
| XM_017016130.1:c.5536-478_5536-477delinsCA | XP_016871619.1:n.5536-478_5536-477delinsCA | |
| XM_017016131.1:c.5521-475_5521-474delinsCA | XP_016871620.1:n.5521-475_5521-474delinsCA | |
| XM_017016132.1:c.5500-475_5500-474delinsCA | XP_016871621.1:n.5500-475_5500-474delinsCA | |
| XM_017016134.1:c.5470-475_5470-474delinsCA | XP_016871623.1:n.5470-475_5470-474delinsCA | |
| XM_017016136.1:c.5320-475_5320-474delinsCA | XP_016871625.1:n.5320-475_5320-474delinsCA | |
| XM_017016137.1:c.5293-475_5293-474delinsCA | XP_016871626.1:n.5293-475_5293-474delinsCA | |
| XM_017016138.1:c.5293-478_5293-477delinsCA | XP_016871627.1:n.5293-478_5293-477delinsCA | |
| XM_017016141.1:c.5188-475_5188-474delinsCA | XP_016871630.1:n.5188-475_5188-474delinsCA | |
| XM_024447953.1:c.13420-475_13420-474delinsCA | XP_024303721.1:n.13420-475_13420-474delinsCA | |
| XM_024447954.1:c.13393-475_13393-474delinsCA | XP_024303722.1:n.13393-475_13393-474delinsCA | |
| XM_024447955.1:c.13384-475_13384-474delinsCA | XP_024303723.1:n.13384-475_13384-474delinsCA | |
| XM_024447956.1:c.13381-475_13381-474delinsCA | XP_024303724.1:n.13381-475_13381-474delinsCA | |
| XM_024447957.1:c.13348-475_13348-474delinsCA | XP_024303725.1:n.13348-475_13348-474delinsCA | |
| XM_024447958.1:c.13330-475_13330-474delinsCA | XP_024303726.1:n.13330-475_13330-474delinsCA | |
| XM_024447959.1:c.13330-475_13330-474delinsCA | XP_024303727.1:n.13330-475_13330-474delinsCA | |
| XM_024447960.1:c.13318-475_13318-474delinsCA | XP_024303728.1:n.13318-475_13318-474delinsCA | |
| XM_024447961.1:c.13315-475_13315-474delinsCA | XP_024303729.1:n.13315-475_13315-474delinsCA | |
| XM_024447962.1:c.12346-475_12346-474delinsCA | XP_024303730.1:n.12346-475_12346-474delinsCA | |
| XM_024447963.1:c.8479-478_8479-477delinsCA | XP_024303731.1:n.8479-478_8479-477delinsCA | |
| XM_024447964.1:c.5833-475_5833-474delinsCA | XP_024303732.1:n.5833-475_5833-474delinsCA | |
| XM_024447965.1:c.5593-475_5593-474delinsCA | XP_024303733.1:n.5593-475_5593-474delinsCA | |
| NM_020987.5:c.13066-475_13066-474delinsCA MANE Select | NP_066267.2:n.13066-475_13066-474delinsCA | |
| NM_001204403.2:c.5518-475_5518-474delinsCA | NP_001191332.1:n.5518-475_5518-474delinsCA | |
| NM_001204404.2:c.5539-475_5539-474delinsCA | NP_001191333.1:n.5539-475_5539-474delinsCA | |
| NM_001320874.2:c.5536-475_5536-474delinsCA | NP_001307803.1:n.5536-475_5536-474delinsCA | |
| NM_001149.4:c.2938-475_2938-474delinsCA | NP_001140.2:n.2938-475_2938-474delinsCA |