Linked Data
ClinVar Variation Id:
88648
ClinVar RCV Id:
RCV000074342
dbSNP Id:
rs879255535
PubMed:
PMID:23390136
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.60069887del , CM000672.2:g.60069887del | GRCh38 |
| NC_000010.10:g.61829645del , CM000672.1:g.61829645del | GRCh37 |
| NC_000010.9:g.61499651del | NCBI36 |
| NG_029917.1:g.668641del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000467420.7:c.4490-1877del | ENSP00000423968.2:n.4490-1877del | |
| ENST00000503366.6:c.4409-1877del | ENSP00000425236.1:n.4409-1877del | |
| ENST00000280772.7:c.10995del MANE Select | ENSP00000280772.1:p.Thr3666LeufsTer2 | |
| ENST00000280772.6:c.10995del | ENSP00000280772.1:p.Thr3666LeufsTer2 | |
| ENST00000355288.6:c.1808-1877del | ENSP00000347436.2:n.1808-1877del | |
| ENST00000373820.5:c.182-1877del | ENSP00000362926.1:n.182-1877del | |
| ENST00000373827.6:c.4388-1877del | ENSP00000362933.2:n.4388-1877del | |
| ENST00000503366.5:c.4409-1877del | ENSP00000425236.1:n.4409-1877del | |
| ENST00000511043.5:c.85-1877del | ||
| ENST00000610321.4:c.4041-1877del | ||
| ENST00000610901.4:c.486+92del | ||
| ENST00000613207.4:c.306+92del | ||
| ENST00000616444.4:c.1224-1877del | ||
| ENST00000618374.4:c.1808-1877del | ENSP00000479018.1:n.1808-1877del | |
| ENST00000621739.1:c.2592+92del | ||
| NM_001149.3:c.1808-1877del | NP_001140.2:n.1808-1877del | |
| NM_001204403.1:c.4388-1877del | NP_001191332.1:n.4388-1877del | |
| NM_001204404.1:c.4409-1877del | NP_001191333.1:n.4409-1877del | |
| NM_020987.3:c.10995del | NP_066267.2:p.Thr3666LeufsTer2 | |
| XM_005269715.2:c.4460-1877del | XP_005269772.1:n.4460-1877del | |
| XM_005269716.2:c.4406-1877del | XP_005269773.1:n.4406-1877del | |
| XM_006717791.2:c.7082-1877del | XP_006717854.1:n.7082-1877del | |
| XM_006717793.2:c.7082-1877del | XP_006717856.1:n.7082-1877del | |
| XM_006717795.2:c.7082-1877del | XP_006717858.1:n.7082-1877del | |
| XM_006717796.2:c.7082-1877del | XP_006717859.1:n.7082-1877del | |
| XM_006717802.2:c.4499-1877del | XP_006717865.1:n.4499-1877del | |
| XM_011539700.1:c.7070-1877del | XP_011538002.1:n.7070-1877del | |
| XM_011539701.1:c.7064-1877del | XP_011538003.1:n.7064-1877del | |
| XM_011539702.1:c.7025-1877del | XP_011538004.1:n.7025-1877del | |
| XM_011539703.1:c.7004-1877del | XP_011538005.1:n.7004-1877del | |
| XM_011539704.1:c.6983-1877del | XP_011538006.1:n.6983-1877del | |
| XM_011539705.1:c.6983-1877del | XP_011538007.1:n.6983-1877del | |
| XM_011539706.1:c.6971-1877del | XP_011538008.1:n.6971-1877del | |
| XM_011539707.1:c.7082-1877del | XP_011538009.1:n.7082-1877del | |
| XM_011539708.1:c.7082-1877del | XP_011538010.1:n.7082-1877del | |
| XM_011539709.1:c.7082-1877del | XP_011538011.1:n.7082-1877del | |
| XM_011539710.1:c.4499-1877del | XP_011538012.1:n.4499-1877del | |
| XM_011539711.1:c.4472-1877del | XP_011538013.1:n.4472-1877del | |
| XM_011539712.1:c.4463-1877del | XP_011538014.1:n.4463-1877del | |
| XM_011539713.1:c.4436-1877del | XP_011538015.1:n.4436-1877del | |
| XM_011539714.1:c.4430-1877del | XP_011538016.1:n.4430-1877del | |
| XM_011539715.1:c.4418-1877del | XP_011538017.1:n.4418-1877del | |
| XM_011539716.1:c.4472-1877del | XP_011538018.1:n.4472-1877del | |
| XM_011539717.1:c.4460-1877del | XP_011538019.1:n.4460-1877del | |
| XM_011539718.1:c.4343-1877del | XP_011538020.1:n.4343-1877del | |
| NM_001320874.1:c.4406-1877del | NP_001307803.1:n.4406-1877del | |
| NM_020987.4:c.10995del | NP_066267.2:p.Thr3666LeufsTer2 | |
| XM_005269715.3:c.4460-1877del | XP_005269772.1:n.4460-1877del | |
| XM_006717796.3:c.7082-1877del | XP_006717859.1:n.7082-1877del | |
| XM_006717802.3:c.4499-1877del | XP_006717865.1:n.4499-1877del | |
| XM_011539708.2:c.7082-1877del | XP_011538010.1:n.7082-1877del | |
| XM_011539709.2:c.7082-1877del | XP_011538011.1:n.7082-1877del | |
| XM_017016110.1:c.11067del | XP_016871599.1:p.Thr3690LeufsTer2 | |
| XM_017016111.1:c.11055del | XP_016871600.1:p.Thr3686LeufsTer2 | |
| XM_017016112.1:c.11052del | XP_016871601.1:p.Thr3685LeufsTer2 | |
| XM_017016113.1:c.11040del | XP_016871602.1:p.Thr3681LeufsTer2 | |
| XM_017016114.1:c.11016del | XP_016871603.1:p.Thr3673LeufsTer2 | |
| XM_017016115.1:c.10989del | XP_016871604.1:p.Thr3664LeufsTer2 | |
| XM_017016116.1:c.11067del | XP_016871605.1:p.Thr3690LeufsTer2 | |
| XM_017016117.1:c.11067del | XP_016871606.1:p.Thr3690LeufsTer2 | |
| XM_017016118.1:c.10975+92del | XP_016871607.1:n.10975+92del | |
| XM_017016119.1:c.10975+92del | XP_016871608.1:n.10975+92del | |
| XM_017016120.1:c.10975+92del | XP_016871609.1:n.10975+92del | |
| XM_017016121.1:c.10948+92del | XP_016871610.1:n.10948+92del | |
| XM_017016122.1:c.6989-1877del | XP_016871611.1:n.6989-1877del | |
| XM_017016123.1:c.7082-1877del | XP_016871612.1:n.7082-1877del | |
| XM_017016124.1:c.7055-1877del | XP_016871613.1:n.7055-1877del | |
| XM_017016125.1:c.7055-1877del | XP_016871614.1:n.7055-1877del | |
| XM_017016126.1:c.6950-1877del | XP_016871615.1:n.6950-1877del | |
| XM_017016127.1:c.6923-1877del | XP_016871616.1:n.6923-1877del | |
| XM_017016128.1:c.4472-1877del | XP_016871617.1:n.4472-1877del | |
| XM_017016129.1:c.4472-1877del | XP_016871618.1:n.4472-1877del | |
| XM_017016130.1:c.4406-1877del | XP_016871619.1:n.4406-1877del | |
| XM_017016131.1:c.4391-1877del | XP_016871620.1:n.4391-1877del | |
| XM_017016132.1:c.4370-1877del | XP_016871621.1:n.4370-1877del | |
| XM_017016134.1:c.4340-1877del | XP_016871623.1:n.4340-1877del | |
| XM_017016136.1:c.4499-1877del | XP_016871625.1:n.4499-1877del | |
| XM_017016137.1:c.4472-1877del | XP_016871626.1:n.4472-1877del | |
| XM_017016138.1:c.4472-1877del | XP_016871627.1:n.4472-1877del | |
| XM_017016141.1:c.4367-1877del | XP_016871630.1:n.4367-1877del | |
| XM_024447953.1:c.11040del | XP_024303721.1:p.Thr3681LeufsTer2 | |
| XM_024447954.1:c.11013del | XP_024303722.1:p.Thr3672LeufsTer2 | |
| XM_024447955.1:c.11004del | XP_024303723.1:p.Thr3669LeufsTer2 | |
| XM_024447956.1:c.11001del | XP_024303724.1:p.Thr3668LeufsTer2 | |
| XM_024447957.1:c.10968del | XP_024303725.1:p.Thr3657LeufsTer2 | |
| XM_024447958.1:c.10950del | XP_024303726.1:p.Thr3651LeufsTer2 | |
| XM_024447959.1:c.10950del | XP_024303727.1:p.Thr3651LeufsTer2 | |
| XM_024447960.1:c.10938del | XP_024303728.1:p.Thr3647LeufsTer2 | |
| XM_024447961.1:c.10935del | XP_024303729.1:p.Thr3646LeufsTer2 | |
| XM_024447962.1:c.10948+92del | XP_024303730.1:n.10948+92del | |
| XM_024447963.1:c.7082-1877del | XP_024303731.1:n.7082-1877del | |
| XM_024447964.1:c.4436-1877del | XP_024303732.1:n.4436-1877del | |
| XM_024447965.1:c.4463-1877del | XP_024303733.1:n.4463-1877del | |
| NM_020987.5:c.10995del MANE Select | NP_066267.2:p.Thr3666LeufsTer2 | |
| NM_001204403.2:c.4388-1877del | NP_001191332.1:n.4388-1877del | |
| NM_001204404.2:c.4409-1877del | NP_001191333.1:n.4409-1877del | |
| NM_001320874.2:c.4406-1877del | NP_001307803.1:n.4406-1877del | |
| NM_001149.4:c.1808-1877del | NP_001140.2:n.1808-1877del |