Linked Data
dbSNP Id:
rs778483500
ExAC:
1:110171388 T / TC
gnomAD v2:
1-110171388-T-TC
gnomAD v4:
1-109628766-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109628771dup , CM000663.2:g.109628771dup | GRCh38 |
| NC_000001.10:g.110171393dup , CM000663.1:g.110171393dup | GRCh37 |
| NC_000001.9:g.109972916dup | NCBI36 |
| NG_034075.1:g.13959dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256578.8:c.1536dup | ENSP00000256578.4:p.Asn513GlnfsTer13 | |
| ENST00000358729.9:c.1536dup | ENSP00000351573.5:p.Asn513GlnfsTer13 | |
| ENST00000369840.7:c.1536dup | ENSP00000358855.3:p.Asn513GlnfsTer13 | |
| ENST00000474459.6:n.2155dup | ||
| ENST00000476688.3:c.1218dup | ENSP00000437025.2:p.Asn407GlnfsTer13 | |
| ENST00000486282.7:n.2492dup | ||
| ENST00000524975.2:n.2017dup | ||
| ENST00000525415.2:n.2052dup | ||
| ENST00000526301.6:n.1599dup | ||
| ENST00000527846.7:n.1391dup | ||
| ENST00000528667.7:c.1536dup MANE Select | ENSP00000436541.2:p.Asn513GlnfsTer13 | |
| ENST00000531203.6:c.1344dup | ENSP00000431975.2:p.Asn449GlnfsTer13 | |
| ENST00000531734.6:c.1455dup | ENSP00000433739.2:p.Asn486GlnfsTer13 | |
| ENST00000652975.2:c.*1288dup | ENSP00000499620.2:n.*1288dup | |
| ENST00000654851.1:n.1378dup | ||
| ENST00000655992.1:c.1344dup | ENSP00000499740.1:p.Asn449GlnfsTer13 | |
| ENST00000659122.2:c.1407+276dup | ENSP00000499621.2:n.1407+276dup | |
| ENST00000663749.1:c.*1283dup | ENSP00000499739.1:n.*1283dup | |
| ENST00000667949.2:c.936dup | ENSP00000499465.2:p.Asn313GlnfsTer13 | |
| ENST00000668421.1:c.*1477dup | ENSP00000499362.1:n.*1477dup | |
| ENST00000679379.1:c.*1288dup | ENSP00000505528.1:n.*1288dup | |
| ENST00000679593.1:c.1536dup | ENSP00000505999.1:p.Asn513GlnfsTer13 | |
| ENST00000679880.1:n.2072dup | ||
| ENST00000679892.1:c.*1304dup | ENSP00000504882.1:n.*1304dup | |
| ENST00000679981.1:c.*1550dup | ENSP00000506422.1:n.*1550dup | |
| ENST00000680132.1:c.*1486dup | ENSP00000505950.1:n.*1486dup | |
| ENST00000680148.1:c.*1288dup | ENSP00000505994.1:n.*1288dup | |
| ENST00000680170.1:n.2401dup | ||
| ENST00000680192.1:n.2494dup | ||
| ENST00000680519.1:n.1772dup | ||
| ENST00000680531.1:c.*1283dup | ENSP00000506332.1:n.*1283dup | |
| ENST00000680820.1:c.*1288dup | ENSP00000505735.1:n.*1288dup | |
| ENST00000680832.1:c.*1636dup | ENSP00000505774.1:n.*1636dup | |
| ENST00000680929.1:c.*1225dup | ENSP00000504916.1:n.*1225dup | |
| ENST00000681108.1:c.*1245+276dup | ENSP00000506701.1:n.*1245+276dup | |
| ENST00000681121.1:c.*646dup | ENSP00000506466.1:n.*646dup | |
| ENST00000681132.1:c.*1302dup | ENSP00000506195.1:n.*1302dup | |
| ENST00000681181.1:c.*1521dup | ENSP00000506038.1:n.*1521dup | |
| ENST00000681218.1:c.*1809dup | ENSP00000505976.1:n.*1809dup | |
| ENST00000681246.1:c.*1192dup | ENSP00000505534.1:n.*1192dup | |
| ENST00000681496.1:c.*1809dup | ENSP00000505948.1:n.*1809dup | |
| ENST00000681834.1:n.1875dup | ||
| ENST00000681862.1:c.*1662dup | ENSP00000505537.1:n.*1662dup | |
| ENST00000256578.7:c.1698dup | ENSP00000256578.3:p.Asn567GlnfsTer13 | |
| ENST00000342115.8:c.1455dup | ENSP00000345498.4:p.Asn486GlnfsTer13 | |
| ENST00000358729.8:c.1473dup | ENSP00000351573.4:p.Asn492GlnfsTer13 | |
| ENST00000369840.6:c.1609dup | ||
| ENST00000393688.7:c.1341dup | ENSP00000377292.3:p.Asn448GlnfsTer13 | |
| ENST00000467071.1:n.58dup | ||
| ENST00000526301.5:n.1737dup | ||
| ENST00000528454.5:c.1344dup | ENSP00000437164.1:p.Asn449GlnfsTer13 | |
| ENST00000528667.5:c.1698dup | ENSP00000436541.1:p.Asn567GlnfsTer13 | |
| ENST00000532851.1:n.246dup | ||
| ENST00000533132.1:n.238dup | ||
| NM_001257360.1:c.1698dup | NP_001244289.1:p.Asn567GlnfsTer13 | |
| NM_001257361.1:c.1344dup | NP_001244290.1:p.Asn449GlnfsTer13 | |
| NM_001308170.1:c.1473dup | NP_001295099.1:p.Asn492GlnfsTer13 | |
| NM_004037.7:c.1698dup | NP_004028.3:p.Asn567GlnfsTer13 | |
| NM_139156.3:c.1455dup | NP_631895.1:p.Asn486GlnfsTer13 | |
| NM_203404.1:c.1341dup | NP_981949.1:p.Asn448GlnfsTer13 | |
| XM_011541247.1:c.1911dup | XP_011539549.1:p.Asn638GlnfsTer13 | |
| XM_011541248.1:c.1782+276dup | XP_011539550.1:n.1782+276dup | |
| XR_946607.1:n.1934dup | ||
| XM_024446431.1:c.1473dup | XP_024302199.1:p.Asn492GlnfsTer13 | |
| XM_024446432.1:c.1430+276dup | XP_024302200.1:n.1430+276dup | |
| XR_002956282.1:n.2109dup | ||
| NM_001257360.2:c.1698dup | NP_001244289.1:p.Asn567GlnfsTer13 | |
| NM_001368809.2:c.1536dup MANE Select | NP_001355738.1:p.Asn513GlnfsTer13 | |
| NM_004037.9:c.1536dup | NP_004028.4:p.Asn513GlnfsTer13 | |
| NM_001257361.2:c.1344dup | NP_001244290.1:p.Asn449GlnfsTer13 | |
| NM_139156.4:c.1455dup | NP_631895.1:p.Asn486GlnfsTer13 |