Linked Data
dbSNP Id:
rs1206733984
gnomAD v3:
7-147571124-T-TTTA
gnomAD v4:
7-147571124-T-TTTA
MyVariant Identifiers:
chr7:g.147268216_147268217insTTA (hg19)
chr7:g.147571124_147571125insTTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147571135_147571137dup , CM000669.2:g.147571135_147571137dup | GRCh38 |
| NC_000007.13:g.147268227_147268229dup , CM000669.1:g.147268227_147268229dup | GRCh37 |
| NC_000007.12:g.146899160_146899162dup | NCBI36 |
| NG_007092.2:g.1459775_1459777dup | |
| NG_007092.3:g.1460135_1460137dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.1897+8878_1897+8880dup MANE Select | ENSP00000354778.3:n.1897+8878_1897+8880dup | |
| ENST00000636870.1:n.1759+8878_1759+8880dup | ||
| ENST00000637825.1:n.1380+8878_1380+8880dup | ||
| ENST00000638117.1:n.1800+8878_1800+8880dup | ||
| ENST00000361727.7:c.1897+8878_1897+8880dup | ENSP00000354778.3:n.1897+8878_1897+8880dup | |
| NM_014141.5:c.1897+8878_1897+8880dup | NP_054860.1:n.1897+8878_1897+8880dup | |
| XM_006715919.1:c.385+8878_385+8880dup | XP_006715982.1:n.385+8878_385+8880dup | |
| XM_017011950.2:c.1897+8878_1897+8880dup | XP_016867439.1:n.1897+8878_1897+8880dup | |
| NM_014141.6:c.1897+8878_1897+8880dup MANE Select | NP_054860.1:n.1897+8878_1897+8880dup |