Linked Data
dbSNP Id:
rs775442068
ExAC:
7:158827333 T / TCC
gnomAD v2:
7-158827333-T-TCC
gnomAD v4:
7-159034642-T-TCC
MyVariant Identifiers:
chr7:g.158827333_158827334insCC (hg19)
chr7:g.159034642_159034643insCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.159034644_159034645dup , CM000669.2:g.159034644_159034645dup | GRCh38 |
| NC_000007.13:g.158827335_158827336dup , CM000669.1:g.158827335_158827336dup | GRCh37 |
| NC_000007.12:g.158520096_158520097dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262178.7:c.816_817dup MANE Select | ENSP00000262178.2:p.Asp273GlyfsTer18 | |
| ENST00000262178.6:c.816_817dup | ENSP00000262178.2:p.Asp273GlyfsTer18 | |
| ENST00000377633.7:c.768_769dup | ENSP00000366860.3:p.Asp257GlyfsTer18 | |
| ENST00000402066.5:c.1239_1240dup | ENSP00000384497.1:p.Asp414GlyfsTer18 | |
| NM_001304522.1:c.576_577dup | NP_001291451.1:p.Asp193GlyfsTer18 | |
| NM_001308259.1:c.768_769dup | NP_001295188.1:p.Asp257GlyfsTer18 | |
| NM_003382.4:c.816_817dup | NP_003373.2:p.Asp273GlyfsTer18 | |
| NR_130758.1:n.1002_1003dup | ||
| XM_005249561.2:c.891_892dup | XP_005249618.1:p.Asp298GlyfsTer18 | |
| XM_006716107.1:c.816_817dup | XP_006716170.1:p.Asp273GlyfsTer18 | |
| XM_006716108.2:c.627_628dup | XP_006716171.1:p.Asp210GlyfsTer18 | |
| XM_011516550.1:c.768_769dup | XP_011514852.1:p.Asp257GlyfsTer18 | |
| XM_011516552.1:c.402_403dup | XP_011514854.1:p.Asp135GlyfsTer18 | |
| XR_242047.2:n.1211_1212dup | ||
| XM_005249561.3:c.891_892dup | XP_005249618.1:p.Asp298GlyfsTer18 | |
| XM_006716107.2:c.816_817dup | XP_006716170.1:p.Asp273GlyfsTer18 | |
| XM_006716108.3:c.627_628dup | XP_006716171.1:p.Asp210GlyfsTer18 | |
| XM_011516550.2:c.768_769dup | XP_011514852.1:p.Asp257GlyfsTer18 | |
| XM_017012580.1:c.402_403dup | XP_016868069.1:p.Asp135GlyfsTer18 | |
| XM_024446914.1:c.891_892dup | XP_024302682.1:p.Asp298GlyfsTer18 | |
| XM_024446915.1:c.891_892dup | XP_024302683.1:p.Asp298GlyfsTer18 | |
| XM_024446916.1:c.816_817dup | XP_024302684.1:p.Asp273GlyfsTer18 | |
| XM_024446917.1:c.627_628dup | XP_024302685.1:p.Asp210GlyfsTer18 | |
| XM_024446918.1:c.402_403dup | XP_024302686.1:p.Asp135GlyfsTer18 | |
| NM_003382.5:c.816_817dup MANE Select | NP_003373.2:p.Asp273GlyfsTer18 | |
| NM_001304522.2:c.576_577dup | NP_001291451.1:p.Asp193GlyfsTer18 | |
| NR_130758.2:n.912_913dup |