Linked Data
dbSNP Id:
rs1392990237
gnomAD v2:
6-20657337-G-GT
gnomAD v3:
6-20657106-G-GT
gnomAD v4:
6-20657106-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.20657106_20657107insT , CM000668.2:g.20657106_20657107insT | GRCh38 |
| NC_000006.11:g.20657337_20657338insT , CM000668.1:g.20657337_20657338insT | GRCh37 |
| NC_000006.10:g.20765316_20765317insT | NCBI36 |
| NG_021195.1:g.127650_127651insT | |
| NG_021195.2:g.127650_127651insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274695.8:c.371+7729_371+7730insT MANE Select | ENSP00000274695.4:n.371+7729_371+7730insT | |
| ENST00000378610.1:c.371+7729_371+7730insT | ENSP00000367873.1:n.371+7729_371+7730insT | |
| NM_017774.3:c.371+7729_371+7730insT MANE Select | NP_060244.2:n.371+7729_371+7730insT | |
| XM_006715128.2:c.371+7729_371+7730insT | XP_006715191.1:n.371+7729_371+7730insT | |
| XM_011514718.1:c.371+7729_371+7730insT | XP_011513020.1:n.371+7729_371+7730insT | |
| XM_011514719.1:c.371+7729_371+7730insT | XP_011513021.1:n.371+7729_371+7730insT | |
| XR_926265.1:n.538+7729_538+7730insT | ||
| XR_926266.1:n.651+7729_651+7730insT | ||
| XR_926267.1:n.538+7729_538+7730insT | ||
| XM_011514719.2:c.371+7729_371+7730insT | XP_011513021.1:n.371+7729_371+7730insT | |
| XM_017010986.1:c.371+7729_371+7730insT | XP_016866475.1:n.371+7729_371+7730insT | |
| XM_017010987.1:c.-384+7729_-384+7730insT | XP_016866476.1:n.-384+7729_-384+7730insT | |
| XM_024446481.1:c.371+7729_371+7730insT | XP_024302249.1:n.371+7729_371+7730insT | |
| XR_001743495.2:n.543+7729_543+7730insT | ||
| XR_001743496.2:n.938+7729_938+7730insT | ||
| XR_001743500.1:n.538+7729_538+7730insT | ||
| XR_001743501.1:n.538+7729_538+7730insT | ||
| XR_926265.2:n.538+7729_538+7730insT | ||
| XR_926266.2:n.651+7729_651+7730insT | ||
| XR_926267.2:n.538+7729_538+7730insT |