Linked Data
dbSNP Id:
rs762136951
ExAC:
7:134346516 G / GT
gnomAD v2:
7-134346516-G-GT
gnomAD v3:
7-134661764-G-GT
gnomAD v4:
7-134661764-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.134661765dup , CM000669.2:g.134661765dup | GRCh38 |
| NC_000007.13:g.134346517dup , CM000669.1:g.134346517dup | GRCh37 |
| NC_000007.12:g.133997057dup | NCBI36 |
| NG_012921.1:g.19987dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344924.8:c.258dup MANE Select | ENSP00000342032.3:p.Leu87SerfsTer3 | |
| ENST00000344924.7:c.258dup | ENSP00000342032.3:p.Leu87SerfsTer3 | |
| ENST00000393132.2:c.258dup | ENSP00000376840.2:p.Leu87SerfsTer3 | |
| ENST00000418040.5:c.258dup | ENSP00000399838.1:p.Leu87SerfsTer3 | |
| NM_001293085.1:c.258dup | NP_001280014.1:p.Leu87SerfsTer3 | |
| NM_001724.4:c.258dup | NP_001715.1:p.Leu87SerfsTer3 | |
| NM_199186.2:c.258dup | NP_954655.1:p.Leu87SerfsTer3 | |
| XM_011516527.1:c.258dup | XP_011514829.1:p.Leu87SerfsTer3 | |
| XR_928017.1:n.6821-630dup | ||
| XM_011516527.2:c.258dup | XP_011514829.1:p.Leu87SerfsTer3 | |
| NM_001724.5:c.258dup MANE Select | NP_001715.1:p.Leu87SerfsTer3 | |
| NM_001293085.2:c.258dup | NP_001280014.1:p.Leu87SerfsTer3 | |
| NM_199186.3:c.258dup | NP_954655.1:p.Leu87SerfsTer3 |