Linked Data
ClinVar Variation Id:
2629265
ClinVar RCV Id:
RCV003412118
dbSNP Id:
rs1421167945
gnomAD v2:
7-65425953-A-AATC
gnomAD v3:
7-65960966-A-AATC
gnomAD v4:
7-65960966-A-AATC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65960967_65960969dup , CM000669.2:g.65960967_65960969dup | GRCh38 |
| NC_000007.13:g.65425954_65425956dup , CM000669.1:g.65425954_65425956dup | GRCh37 |
| NC_000007.12:g.65063389_65063391dup | NCBI36 |
| NG_016197.1:g.26346_26348dup | |
| NG_051954.1:g.92869_92871dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.1884_1886dup MANE Select | ENSP00000302728.4:p.Lys628_Ile629insMet | |
| ENST00000304895.8:c.1884_1886dup | ENSP00000302728.4:p.Lys628_Ile629insMet | |
| ENST00000421103.5:c.1446_1448dup | ENSP00000391390.1:p.Lys482_Ile483insMet | |
| ENST00000430730.5:c.*1151_*1153dup | ENSP00000411859.1:n.*1151_*1153dup | |
| ENST00000447929.5:c.*1264_*1266dup | ENSP00000411262.1:n.*1264_*1266dup | |
| ENST00000466883.5:n.2274_2276dup | ||
| NM_000181.3:c.1884_1886dup | NP_000172.2:p.Lys628_Ile629insMet | |
| NM_001284290.1:c.1446_1448dup | NP_001271219.1:p.Lys482_Ile483insMet | |
| NM_001293104.1:c.1314_1316dup | NP_001280033.1:p.Lys438_Ile439insMet | |
| NM_001293105.1:c.1227_1229dup | NP_001280034.1:p.Lys409_Ile410insMet | |
| NR_120531.1:n.1930_1932dup | ||
| XM_005250297.3:c.1731_1733dup | XP_005250354.1:p.Lys577_Ile578insMet | |
| XM_011516113.1:c.1383_1385dup | XP_011514415.1:p.Lys461_Ile462insMet | |
| XM_011516114.1:c.1212_1214dup | XP_011514416.1:p.Lys404_Ile405insMet | |
| XM_005250297.4:c.1731_1733dup | XP_005250354.1:p.Lys577_Ile578insMet | |
| XM_011516114.2:c.1212_1214dup | XP_011514416.1:p.Lys404_Ile405insMet | |
| XM_017012091.1:c.1230_1232dup | XP_016867580.1:p.Lys410_Ile411insMet | |
| XM_017012092.1:c.1161_1163dup | XP_016867581.1:p.Lys387_Ile388insMet | |
| XM_017012093.2:c.1059_1061dup | XP_016867582.1:p.Lys353_Ile354insMet | |
| XR_001744658.2:n.1691_1693dup | ||
| XR_001744659.2:n.1804_1806dup | ||
| XR_001744660.2:n.1736_1738dup | ||
| XR_001744661.2:n.1651_1653dup | ||
| XR_927461.3:n.1889_1891dup | ||
| NM_000181.4:c.1884_1886dup MANE Select | NP_000172.2:p.Lys628_Ile629insMet | |
| NM_001284290.2:c.1446_1448dup | NP_001271219.1:p.Lys482_Ile483insMet | |
| NM_001293104.2:c.1314_1316dup | NP_001280033.1:p.Lys438_Ile439insMet | |
| NM_001293105.2:c.1227_1229dup | NP_001280034.1:p.Lys409_Ile410insMet | |
| NR_120531.2:n.1829_1831dup |