Linked Data
dbSNP Id:
rs1564756294
gnomAD v2:
10-61829523-CTGA-C
gnomAD v4:
10-60069765-CTGA-C
MyVariant Identifiers:
chr10:g.61829524_61829526del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.60069767_60069769del , CM000672.2:g.60069767_60069769del | GRCh38 |
| NC_000010.10:g.61829525_61829527del , CM000672.1:g.61829525_61829527del | GRCh37 |
| NC_000010.9:g.61499531_61499533del | NCBI36 |
| NG_029917.1:g.668759_668761del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000467420.7:c.4490-1759_4490-1757del | ENSP00000423968.2:n.4490-1759_4490-1757del | |
| ENST00000503366.6:c.4409-1759_4409-1757del | ENSP00000425236.1:n.4409-1759_4409-1757del | |
| ENST00000280772.7:c.11113_11115del MANE Select | ENSP00000280772.1:p.Ser3705del | |
| ENST00000280772.6:c.11113_11115del | ENSP00000280772.1:p.Ser3705del | |
| ENST00000355288.6:c.1808-1759_1808-1757del | ENSP00000347436.2:n.1808-1759_1808-1757del | |
| ENST00000373820.5:c.182-1759_182-1757del | ENSP00000362926.1:n.182-1759_182-1757del | |
| ENST00000373827.6:c.4388-1759_4388-1757del | ENSP00000362933.2:n.4388-1759_4388-1757del | |
| ENST00000503366.5:c.4409-1759_4409-1757del | ENSP00000425236.1:n.4409-1759_4409-1757del | |
| ENST00000511043.5:c.85-1759_85-1757del | ||
| ENST00000610321.4:c.4041-1759_4041-1757del | ||
| ENST00000610901.4:c.486+210_486+212del | ||
| ENST00000613207.4:c.306+210_306+212del | ||
| ENST00000616444.4:c.1224-1759_1224-1757del | ||
| ENST00000618374.4:c.1808-1759_1808-1757del | ENSP00000479018.1:n.1808-1759_1808-1757del | |
| ENST00000621739.1:c.2592+210_2592+212del | ||
| NM_001149.3:c.1808-1759_1808-1757del | NP_001140.2:n.1808-1759_1808-1757del | |
| NM_001204403.1:c.4388-1759_4388-1757del | NP_001191332.1:n.4388-1759_4388-1757del | |
| NM_001204404.1:c.4409-1759_4409-1757del | NP_001191333.1:n.4409-1759_4409-1757del | |
| NM_020987.3:c.11113_11115del | NP_066267.2:p.Ser3705del | |
| XM_005269715.2:c.4460-1759_4460-1757del | XP_005269772.1:n.4460-1759_4460-1757del | |
| XM_005269716.2:c.4406-1759_4406-1757del | XP_005269773.1:n.4406-1759_4406-1757del | |
| XM_006717791.2:c.7082-1759_7082-1757del | XP_006717854.1:n.7082-1759_7082-1757del | |
| XM_006717793.2:c.7082-1759_7082-1757del | XP_006717856.1:n.7082-1759_7082-1757del | |
| XM_006717795.2:c.7082-1759_7082-1757del | XP_006717858.1:n.7082-1759_7082-1757del | |
| XM_006717796.2:c.7082-1759_7082-1757del | XP_006717859.1:n.7082-1759_7082-1757del | |
| XM_006717802.2:c.4499-1759_4499-1757del | XP_006717865.1:n.4499-1759_4499-1757del | |
| XM_011539700.1:c.7070-1759_7070-1757del | XP_011538002.1:n.7070-1759_7070-1757del | |
| XM_011539701.1:c.7064-1759_7064-1757del | XP_011538003.1:n.7064-1759_7064-1757del | |
| XM_011539702.1:c.7025-1759_7025-1757del | XP_011538004.1:n.7025-1759_7025-1757del | |
| XM_011539703.1:c.7004-1759_7004-1757del | XP_011538005.1:n.7004-1759_7004-1757del | |
| XM_011539704.1:c.6983-1759_6983-1757del | XP_011538006.1:n.6983-1759_6983-1757del | |
| XM_011539705.1:c.6983-1759_6983-1757del | XP_011538007.1:n.6983-1759_6983-1757del | |
| XM_011539706.1:c.6971-1759_6971-1757del | XP_011538008.1:n.6971-1759_6971-1757del | |
| XM_011539707.1:c.7082-1759_7082-1757del | XP_011538009.1:n.7082-1759_7082-1757del | |
| XM_011539708.1:c.7082-1759_7082-1757del | XP_011538010.1:n.7082-1759_7082-1757del | |
| XM_011539709.1:c.7082-1759_7082-1757del | XP_011538011.1:n.7082-1759_7082-1757del | |
| XM_011539710.1:c.4499-1759_4499-1757del | XP_011538012.1:n.4499-1759_4499-1757del | |
| XM_011539711.1:c.4472-1759_4472-1757del | XP_011538013.1:n.4472-1759_4472-1757del | |
| XM_011539712.1:c.4463-1759_4463-1757del | XP_011538014.1:n.4463-1759_4463-1757del | |
| XM_011539713.1:c.4436-1759_4436-1757del | XP_011538015.1:n.4436-1759_4436-1757del | |
| XM_011539714.1:c.4430-1759_4430-1757del | XP_011538016.1:n.4430-1759_4430-1757del | |
| XM_011539715.1:c.4418-1759_4418-1757del | XP_011538017.1:n.4418-1759_4418-1757del | |
| XM_011539716.1:c.4472-1759_4472-1757del | XP_011538018.1:n.4472-1759_4472-1757del | |
| XM_011539717.1:c.4460-1759_4460-1757del | XP_011538019.1:n.4460-1759_4460-1757del | |
| XM_011539718.1:c.4343-1759_4343-1757del | XP_011538020.1:n.4343-1759_4343-1757del | |
| NM_001320874.1:c.4406-1759_4406-1757del | NP_001307803.1:n.4406-1759_4406-1757del | |
| NM_020987.4:c.11113_11115del | NP_066267.2:p.Ser3705del | |
| XM_005269715.3:c.4460-1759_4460-1757del | XP_005269772.1:n.4460-1759_4460-1757del | |
| XM_006717796.3:c.7082-1759_7082-1757del | XP_006717859.1:n.7082-1759_7082-1757del | |
| XM_006717802.3:c.4499-1759_4499-1757del | XP_006717865.1:n.4499-1759_4499-1757del | |
| XM_011539708.2:c.7082-1759_7082-1757del | XP_011538010.1:n.7082-1759_7082-1757del | |
| XM_011539709.2:c.7082-1759_7082-1757del | XP_011538011.1:n.7082-1759_7082-1757del | |
| XM_017016110.1:c.11185_11187del | XP_016871599.1:p.Ser3729del | |
| XM_017016111.1:c.11173_11175del | XP_016871600.1:p.Ser3725del | |
| XM_017016112.1:c.11170_11172del | XP_016871601.1:p.Ser3724del | |
| XM_017016113.1:c.11158_11160del | XP_016871602.1:p.Ser3720del | |
| XM_017016114.1:c.11134_11136del | XP_016871603.1:p.Ser3712del | |
| XM_017016115.1:c.11107_11109del | XP_016871604.1:p.Ser3703del | |
| XM_017016116.1:c.11185_11187del | XP_016871605.1:p.Ser3729del | |
| XM_017016117.1:c.11185_11187del | XP_016871606.1:p.Ser3729del | |
| XM_017016118.1:c.10975+210_10975+212del | XP_016871607.1:n.10975+210_10975+212del | |
| XM_017016119.1:c.10975+210_10975+212del | XP_016871608.1:n.10975+210_10975+212del | |
| XM_017016120.1:c.10975+210_10975+212del | XP_016871609.1:n.10975+210_10975+212del | |
| XM_017016121.1:c.10948+210_10948+212del | XP_016871610.1:n.10948+210_10948+212del | |
| XM_017016122.1:c.6989-1759_6989-1757del | XP_016871611.1:n.6989-1759_6989-1757del | |
| XM_017016123.1:c.7082-1759_7082-1757del | XP_016871612.1:n.7082-1759_7082-1757del | |
| XM_017016124.1:c.7055-1759_7055-1757del | XP_016871613.1:n.7055-1759_7055-1757del | |
| XM_017016125.1:c.7055-1759_7055-1757del | XP_016871614.1:n.7055-1759_7055-1757del | |
| XM_017016126.1:c.6950-1759_6950-1757del | XP_016871615.1:n.6950-1759_6950-1757del | |
| XM_017016127.1:c.6923-1759_6923-1757del | XP_016871616.1:n.6923-1759_6923-1757del | |
| XM_017016128.1:c.4472-1759_4472-1757del | XP_016871617.1:n.4472-1759_4472-1757del | |
| XM_017016129.1:c.4472-1759_4472-1757del | XP_016871618.1:n.4472-1759_4472-1757del | |
| XM_017016130.1:c.4406-1759_4406-1757del | XP_016871619.1:n.4406-1759_4406-1757del | |
| XM_017016131.1:c.4391-1759_4391-1757del | XP_016871620.1:n.4391-1759_4391-1757del | |
| XM_017016132.1:c.4370-1759_4370-1757del | XP_016871621.1:n.4370-1759_4370-1757del | |
| XM_017016134.1:c.4340-1759_4340-1757del | XP_016871623.1:n.4340-1759_4340-1757del | |
| XM_017016136.1:c.4499-1759_4499-1757del | XP_016871625.1:n.4499-1759_4499-1757del | |
| XM_017016137.1:c.4472-1759_4472-1757del | XP_016871626.1:n.4472-1759_4472-1757del | |
| XM_017016138.1:c.4472-1759_4472-1757del | XP_016871627.1:n.4472-1759_4472-1757del | |
| XM_017016141.1:c.4367-1759_4367-1757del | XP_016871630.1:n.4367-1759_4367-1757del | |
| XM_024447953.1:c.11158_11160del | XP_024303721.1:p.Ser3720del | |
| XM_024447954.1:c.11131_11133del | XP_024303722.1:p.Ser3711del | |
| XM_024447955.1:c.11122_11124del | XP_024303723.1:p.Ser3708del | |
| XM_024447956.1:c.11119_11121del | XP_024303724.1:p.Ser3707del | |
| XM_024447957.1:c.11086_11088del | XP_024303725.1:p.Ser3696del | |
| XM_024447958.1:c.11068_11070del | XP_024303726.1:p.Ser3690del | |
| XM_024447959.1:c.11068_11070del | XP_024303727.1:p.Ser3690del | |
| XM_024447960.1:c.11056_11058del | XP_024303728.1:p.Ser3686del | |
| XM_024447961.1:c.11053_11055del | XP_024303729.1:p.Ser3685del | |
| XM_024447962.1:c.10948+210_10948+212del | XP_024303730.1:n.10948+210_10948+212del | |
| XM_024447963.1:c.7082-1759_7082-1757del | XP_024303731.1:n.7082-1759_7082-1757del | |
| XM_024447964.1:c.4436-1759_4436-1757del | XP_024303732.1:n.4436-1759_4436-1757del | |
| XM_024447965.1:c.4463-1759_4463-1757del | XP_024303733.1:n.4463-1759_4463-1757del | |
| NM_020987.5:c.11113_11115del MANE Select | NP_066267.2:p.Ser3705del | |
| NM_001204403.2:c.4388-1759_4388-1757del | NP_001191332.1:n.4388-1759_4388-1757del | |
| NM_001204404.2:c.4409-1759_4409-1757del | NP_001191333.1:n.4409-1759_4409-1757del | |
| NM_001320874.2:c.4406-1759_4406-1757del | NP_001307803.1:n.4406-1759_4406-1757del | |
| NM_001149.4:c.1808-1759_1808-1757del | NP_001140.2:n.1808-1759_1808-1757del |