Linked Data
ClinVar Variation Id:
137614
ClinVar RCV Id:
RCV000125463
dbSNP Id:
rs879255574
MyVariant Identifiers:
chr8:g.62438580_62438584delinsCCC (hg19)
chr8:g.61526021_61526025delinsCCC (hg38)
PubMed:
PMID:24768550
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.61526021_61526025delinsCCC , CM000670.2:g.61526021_61526025delinsCCC | GRCh38 |
| NC_000008.10:g.62438580_62438584delinsCCC , CM000670.1:g.62438580_62438584delinsCCC | GRCh37 |
| NC_000008.9:g.62601134_62601138delinsCCC | NCBI36 |
| NG_013210.1:g.193616_193620delinsGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379454.9:c.1852_1856delinsGGG MANE Select | ENSP00000368767.4:p.Asn618GlyfsTer20 | |
| ENST00000541428.5:c.1765_1769delinsGGG | ENSP00000437864.1:p.Asn589GlyfsTer20 | |
| ENST00000379454.8:c.1852_1856delinsGGG | ENSP00000368767.4:p.Asn618GlyfsTer20 | |
| ENST00000521909.1:n.62_66delinsGGG | ||
| ENST00000541428.3:c.1765_1769delinsGGG | ENSP00000437864.1:p.Asn589GlyfsTer20 | |
| NM_001164750.1:c.1765_1769delinsGGG | NP_001158222.1:p.Asn589GlyfsTer20 | |
| NM_004318.3:c.1852_1856delinsGGG | NP_004309.2:p.Asn618GlyfsTer20 | |
| XM_005251235.1:c.1897_1901delinsGGG | XP_005251292.1:p.Asn633GlyfsTer20 | |
| XM_005251236.1:c.1894_1898delinsGGG | XP_005251293.1:p.Asn632GlyfsTer20 | |
| XM_005251238.1:c.1852_1856delinsGGG | XP_005251295.1:p.Asn618GlyfsTer20 | |
| XM_005251239.1:c.1840_1844delinsGGG | XP_005251296.1:p.Asn614GlyfsTer20 | |
| XM_005251240.1:c.1810_1814delinsGGG | XP_005251297.1:p.Asn604GlyfsTer20 | |
| XM_005251241.1:c.1807_1811delinsGGG | XP_005251298.1:p.Asn603GlyfsTer20 | |
| XM_005251242.2:c.1795_1799delinsGGG | XP_005251299.1:p.Asn599GlyfsTer20 | |
| XM_005251243.1:c.1768_1772delinsGGG | XP_005251300.1:p.Asn590GlyfsTer20 | |
| XM_005251244.1:c.1750_1754delinsGGG | XP_005251301.1:p.Asn584GlyfsTer20 | |
| XM_005251246.2:c.1723_1727delinsGGG | XP_005251303.1:p.Asn575GlyfsTer20 | |
| XM_005251247.1:c.1711_1715delinsGGG | XP_005251304.1:p.Asn571GlyfsTer20 | |
| XM_005251248.1:c.1708_1712delinsGGG | XP_005251305.1:p.Asn570GlyfsTer20 | |
| XM_005251249.1:c.1681_1685delinsGGG | XP_005251306.1:p.Asn561GlyfsTer20 | |
| XM_005251250.2:c.1666_1670delinsGGG | XP_005251307.1:p.Asn556GlyfsTer20 | |
| XM_011517532.1:c.1897_1901delinsGGG | XP_011515834.1:p.Asn633GlyfsTer20 | |
| XM_005251235.2:c.1897_1901delinsGGG | XP_005251292.1:p.Asn633GlyfsTer20 | |
| XM_005251236.2:c.1894_1898delinsGGG | XP_005251293.1:p.Asn632GlyfsTer20 | |
| XM_005251239.2:c.1840_1844delinsGGG | XP_005251296.1:p.Asn614GlyfsTer20 | |
| XM_005251242.3:c.1795_1799delinsGGG | XP_005251299.1:p.Asn599GlyfsTer20 | |
| XM_005251243.2:c.1768_1772delinsGGG | XP_005251300.1:p.Asn590GlyfsTer20 | |
| XM_005251246.3:c.1723_1727delinsGGG | XP_005251303.1:p.Asn575GlyfsTer20 | |
| XM_005251247.2:c.1711_1715delinsGGG | XP_005251304.1:p.Asn571GlyfsTer20 | |
| XM_017013419.1:c.1897_1901delinsGGG | XP_016868908.1:p.Asn633GlyfsTer20 | |
| XM_017013420.1:c.1894_1898delinsGGG | XP_016868909.1:p.Asn632GlyfsTer20 | |
| XM_017013421.1:c.1855_1859delinsGGG | XP_016868910.1:p.Asn619GlyfsTer20 | |
| XM_017013422.2:c.1852_1856delinsGGG | XP_016868911.1:p.Asn618GlyfsTer20 | |
| XM_017013424.2:c.1849_1853delinsGGG | XP_016868913.1:p.Asn617GlyfsTer20 | |
| XM_017013425.1:c.1840_1844delinsGGG | XP_016868914.1:p.Asn614GlyfsTer20 | |
| XM_017013426.1:c.1810_1814delinsGGG | XP_016868915.1:p.Asn604GlyfsTer20 | |
| XM_017013427.1:c.1807_1811delinsGGG | XP_016868916.1:p.Asn603GlyfsTer20 | |
| XM_017013428.2:c.1795_1799delinsGGG | XP_016868917.1:p.Asn599GlyfsTer20 | |
| XM_017013429.2:c.1849_1853delinsGGG | XP_016868918.1:p.Asn617GlyfsTer20 | |
| XM_017013430.1:c.1768_1772delinsGGG | XP_016868919.1:p.Asn590GlyfsTer20 | |
| XM_017013431.1:c.1765_1769delinsGGG | XP_016868920.1:p.Asn589GlyfsTer20 | |
| XM_017013432.1:c.1765_1769delinsGGG | XP_016868921.1:p.Asn589GlyfsTer20 | |
| XM_017013433.1:c.1762_1766delinsGGG | XP_016868922.1:p.Asn588GlyfsTer20 | |
| XM_017013434.1:c.1837_1841delinsGGG | XP_016868923.1:p.Asn613GlyfsTer20 | |
| XM_017013435.1:c.1750_1754delinsGGG | XP_016868924.1:p.Asn584GlyfsTer20 | |
| XM_017013437.2:c.1723_1727delinsGGG | XP_016868926.1:p.Asn575GlyfsTer20 | |
| XM_017013438.1:c.1765_1769delinsGGG | XP_016868927.1:p.Asn589GlyfsTer20 | |
| XM_017013439.1:c.1762_1766delinsGGG | XP_016868928.1:p.Asn588GlyfsTer20 | |
| XM_017013440.1:c.1681_1685delinsGGG | XP_016868929.1:p.Asn561GlyfsTer20 | |
| XM_017013444.1:c.1636_1640delinsGGG | XP_016868933.1:p.Asn546GlyfsTer20 | |
| XM_024447155.1:c.1711_1715delinsGGG | XP_024302923.1:p.Asn571GlyfsTer20 | |
| XM_024447156.1:c.1708_1712delinsGGG | XP_024302924.1:p.Asn570GlyfsTer20 | |
| NM_004318.4:c.1852_1856delinsGGG MANE Select | NP_004309.2:p.Asn618GlyfsTer20 | |
| NM_001164750.2:c.1765_1769delinsGGG | NP_001158222.1:p.Asn589GlyfsTer20 |