Linked Data
ClinVar Variation Id:
6003
dbSNP Id:
rs80338725
gnomAD v2:
7-95751240-G-GCCCGGGCAGCCACCTGTAATCTC
gnomAD v3:
7-96121928-G-GCCCGGGCAGCCACCTGTAATCTC
gnomAD v4:
7-96121928-G-GCCCGGGCAGCCACCTGTAATCTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.96121929_96121951dup , CM000669.2:g.96121929_96121951dup | GRCh38 |
| NC_000007.13:g.95751241_95751263dup , CM000669.1:g.95751241_95751263dup | GRCh37 |
| NC_000007.12:g.95589177_95589199dup | NCBI36 |
| NG_012247.1:g.205197_205219dup | |
| NG_012247.2:g.205197_205219dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265631.10:c.1638_1660dup MANE Select | ENSP00000265631.6:p.Ala554GlyfsTer17 | |
| ENST00000265631.9:c.1638_1660dup | ENSP00000265631.5:p.Ala554GlyfsTer17 | |
| ENST00000416240.6:c.1641_1663dup | ENSP00000400101.2:p.Ala555GlyfsTer17 | |
| ENST00000494085.1:n.48_70dup | ||
| NM_001160210.1:c.1641_1663dup | NP_001153682.1:p.Ala555GlyfsTer17 | |
| NM_014251.2:c.1638_1660dup | NP_055066.1:p.Ala554GlyfsTer17 | |
| NR_027662.1:n.1713_1735dup | ||
| XM_006715831.2:c.1671_1693dup | XP_006715894.1:p.Ala565GlyfsTer17 | |
| XM_011515728.1:c.786_808dup | XP_011514030.1:p.Ala270GlyfsTer17 | |
| XM_006715831.4:c.1671_1693dup | XP_006715894.1:p.Ala565GlyfsTer17 | |
| XM_017011663.1:c.1629_1651dup | XP_016867152.1:p.Ala551GlyfsTer17 | |
| XM_017011664.2:c.786_808dup | XP_016867153.1:p.Ala270GlyfsTer17 | |
| XM_017011665.1:c.786_808dup | XP_016867154.1:p.Ala270GlyfsTer17 | |
| XR_001744525.2:n.1884_1906dup | ||
| XR_002956405.1:n.2442_2464dup | ||
| NM_014251.3:c.1638_1660dup MANE Select | NP_055066.1:p.Ala554GlyfsTer17 | |
| NR_027662.2:n.1664_1686dup | ||
| NM_001160210.2:c.1641_1663dup | NP_001153682.1:p.Ala555GlyfsTer17 |