Linked Data
dbSNP Id:
rs1657910647
gnomAD v3:
1-197121822-C-CATCCATAAAATGTAAAATCATATCA
gnomAD v4:
1-197121822-C-CATCCATAAAATGTAAAATCATATCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197121824_197121848dup , CM000663.2:g.197121824_197121848dup | GRCh38 |
| NC_000001.10:g.197090954_197090978dup , CM000663.1:g.197090954_197090978dup | GRCh37 |
| NC_000001.9:g.195357577_195357601dup | NCBI36 |
| NG_015867.1:g.29848_29872dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.1912+68_1912+92dup | ||
| ENST00000367409.9:c.3870+68_3870+92dup MANE Select | ENSP00000356379.4:n.3870+68_3870+92dup | |
| ENST00000680265.1:c.3870+68_3870+92dup | ENSP00000505384.1:n.3870+68_3870+92dup | |
| ENST00000680710.1:c.3870+68_3870+92dup | ENSP00000506676.1:n.3870+68_3870+92dup | |
| ENST00000681879.1:c.3918+20_3918+44dup | ENSP00000505363.1:n.3918+20_3918+44dup | |
| ENST00000294732.11:c.3870+68_3870+92dup | ENSP00000294732.7:n.3870+68_3870+92dup | |
| ENST00000367408.5:c.1620+68_1620+92dup | ENSP00000356378.1:n.1620+68_1620+92dup | |
| ENST00000367409.8:c.3870+68_3870+92dup | ENSP00000356379.4:n.3870+68_3870+92dup | |
| ENST00000612785.1:c.562-19200_562-19176dup | ENSP00000479244.1:n.562-19200_562-19176dup | |
| NM_001206846.1:c.3870+68_3870+92dup | NP_001193775.1:n.3870+68_3870+92dup | |
| NM_018136.4:c.3870+68_3870+92dup | NP_060606.3:n.3870+68_3870+92dup | |
| NM_018136.5:c.3870+68_3870+92dup MANE Select | NP_060606.3:n.3870+68_3870+92dup | |
| NM_001206846.2:c.3870+68_3870+92dup | NP_001193775.1:n.3870+68_3870+92dup |