Linked Data
dbSNP Id:
rs11371206
gnomAD v2:
6-20678322-G-GTT
gnomAD v3:
6-20678091-G-GTT
gnomAD v4:
6-20678091-G-GTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.20678102_20678103dup , CM000668.2:g.20678102_20678103dup | GRCh38 |
| NC_000006.11:g.20678333_20678334dup , CM000668.1:g.20678333_20678334dup | GRCh37 |
| NC_000006.10:g.20786312_20786313dup | NCBI36 |
| NG_021195.1:g.148646_148647dup | |
| NG_021195.2:g.148646_148647dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274695.8:c.371+28725_371+28726dup MANE Select | ENSP00000274695.4:n.371+28725_371+28726du... | |
| ENST00000378610.1:c.371+28725_371+28726dup | ENSP00000367873.1:n.371+28725_371+28726du... | |
| NM_017774.3:c.371+28725_371+28726dup MANE Select | NP_060244.2:n.371+28725_371+28726dup | |
| XM_006715128.2:c.371+28725_371+28726dup | XP_006715191.1:n.371+28725_371+28726dup | |
| XM_011514718.1:c.371+28725_371+28726dup | XP_011513020.1:n.371+28725_371+28726dup | |
| XM_011514719.1:c.371+28725_371+28726dup | XP_011513021.1:n.371+28725_371+28726dup | |
| XR_926265.1:n.538+28725_538+28726dup | ||
| XR_926266.1:n.651+28725_651+28726dup | ||
| XR_926267.1:n.538+28725_538+28726dup | ||
| XM_011514719.2:c.371+28725_371+28726dup | XP_011513021.1:n.371+28725_371+28726dup | |
| XM_017010986.1:c.371+28725_371+28726dup | XP_016866475.1:n.371+28725_371+28726dup | |
| XM_017010987.1:c.-384+28725_-384+28726dup | XP_016866476.1:n.-384+28725_-384+28726dup... | |
| XM_024446481.1:c.371+28725_371+28726dup | XP_024302249.1:n.371+28725_371+28726dup | |
| XR_001743495.2:n.543+28725_543+28726dup | ||
| XR_001743496.2:n.938+28725_938+28726dup | ||
| XR_001743500.1:n.538+28725_538+28726dup | ||
| XR_001743501.1:n.538+28725_538+28726dup | ||
| XR_926265.2:n.538+28725_538+28726dup | ||
| XR_926266.2:n.651+28725_651+28726dup | ||
| XR_926267.2:n.538+28725_538+28726dup |