Linked Data
dbSNP Id:
rs373281216
gnomAD v2:
2-223066535-G-GA
gnomAD v3:
2-222201816-G-GA
gnomAD v4:
2-222201816-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.222201816_222201817insA , CM000664.2:g.222201816_222201817insA | GRCh38 |
| NC_000002.11:g.223066535_223066536insA , CM000664.1:g.223066535_223066536insA | GRCh37 |
| NC_000002.10:g.222774779_222774780insA | NCBI36 |
| NG_011632.1:g.102165_102166insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336840.11:c.1174-375_1174-374insT | ENSP00000338767.5:n.1174-375_1174-374insT | |
| ENST00000344493.9:c.1174-375_1174-374insT | ENSP00000342092.4:n.1174-375_1174-374insT | |
| ENST00000350526.9:c.*107_*108insT | ENSP00000343052.4:n.*107_*108insT | |
| ENST00000392070.7:c.1420+127_1420+128insT MANE Select | ENSP00000375922.3:n.1420+127_1420+128insT | |
| ENST00000464706.6:n.858+127_858+128insT | ||
| ENST00000644699.1:n.746+127_746+128insT | ||
| ENST00000646154.1:n.1234+127_1234+128insT | ||
| ENST00000336840.10:c.1174-375_1174-374insT | ENSP00000338767.5:n.1174-375_1174-374insT | |
| ENST00000344493.8:c.1174-375_1174-374insT | ENSP00000342092.4:n.1174-375_1174-374insT | |
| ENST00000350526.8:c.*107_*108insT | ENSP00000343052.4:n.*107_*108insT | |
| ENST00000392069.6:c.1420+127_1420+128insT | ENSP00000375921.2:n.1420+127_1420+128insT | |
| ENST00000392070.6:c.1420+127_1420+128insT | ENSP00000375922.2:n.1420+127_1420+128insT | |
| ENST00000409551.7:c.1417+127_1417+128insT | ENSP00000386750.3:n.1417+127_1417+128insT | |
| NM_001127366.2:c.1417+127_1417+128insT | NP_001120838.1:n.1417+127_1417+128insT | |
| NM_181457.3:c.*107_*108insT | NP_852122.1:n.*107_*108insT | |
| NM_181458.3:c.1420+127_1420+128insT | NP_852123.1:n.1420+127_1420+128insT | |
| NM_181459.3:c.1420+127_1420+128insT | NP_852124.1:n.1420+127_1420+128insT | |
| NM_181460.3:c.1174-375_1174-374insT | NP_852125.1:n.1174-375_1174-374insT | |
| NM_181461.3:c.1174-375_1174-374insT | NP_852126.1:n.1174-375_1174-374insT | |
| XM_011511278.1:c.1564+127_1564+128insT | XP_011509580.1:n.1564+127_1564+128insT | |
| XM_011511279.1:c.856+127_856+128insT | XP_011509581.1:n.856+127_856+128insT | |
| NM_001127366.3:c.1417+127_1417+128insT | NP_001120838.1:n.1417+127_1417+128insT | |
| NM_181457.4:c.*107_*108insT | NP_852122.1:n.*107_*108insT | |
| NM_181458.4:c.1420+127_1420+128insT MANE Select | NP_852123.1:n.1420+127_1420+128insT | |
| NM_181459.4:c.1420+127_1420+128insT | NP_852124.1:n.1420+127_1420+128insT | |
| NM_181460.4:c.1174-375_1174-374insT | NP_852125.1:n.1174-375_1174-374insT | |
| NM_181461.4:c.1174-375_1174-374insT | NP_852126.1:n.1174-375_1174-374insT |