Linked Data
ClinVar Variation Id:
125607
ClinVar RCV Id:
RCV000112004
dbSNP Id:
rs273899700
MyVariant Identifiers:
chr17:g.41244431_41244434delinsTC (hg19)
chr17:g.43092414_43092417delinsTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43092414_43092417delinsTC , CM000679.2:g.43092414_43092417delinsTC | GRCh38 |
| NC_000017.10:g.41244431_41244434delinsTC , CM000679.1:g.41244431_41244434delinsTC | GRCh37 |
| NC_000017.9:g.38497957_38497960delinsTC | NCBI36 |
| NG_005905.2:g.125567_125570delinsGA , LRG_292:g.125567_125570delinsGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.3178_3181delinsGA | ||
| ENST00000461574.2:c.3114_3117delinsGA | ENSP00000417241.2:p.Ala1039LysfsTer6 | |
| ENST00000470026.6:c.3114_3117delinsGA | ENSP00000419274.2:p.Ala1039LysfsTer6 | |
| ENST00000473961.6:c.2988_2991delinsGA | ENSP00000420201.2:p.Ala997LysfsTer6 | |
| ENST00000476777.6:c.3111_3114delinsGA | ENSP00000417554.2:p.Ala1038LysfsTer6 | |
| ENST00000477152.6:c.3036_3039delinsGA | ENSP00000419988.2:p.Ala1013LysfsTer6 | |
| ENST00000478531.6:c.785-1385_785-1382delinsGA | ENSP00000420412.2:n.785-1385_785-1382delinsGA | |
| ENST00000489037.2:c.3036_3039delinsGA | ENSP00000420781.2:p.Ala1013LysfsTer6 | |
| ENST00000493919.6:c.647-1385_647-1382delinsGA | ENSP00000418819.2:n.647-1385_647-1382delinsGA | |
| ENST00000494123.6:c.3114_3117delinsGA | ENSP00000419103.2:p.Ala1039LysfsTer6 | |
| ENST00000497488.2:c.2226_2229delinsGA | ENSP00000418986.2:p.Ala743LysfsTer6 | |
| ENST00000618469.2:c.3114_3117delinsGA | ENSP00000478114.2:p.Ala1039LysfsTer6 | |
| ENST00000634433.2:c.2991_2994delinsGA | ENSP00000489431.2:p.Ala998LysfsTer6 | |
| ENST00000644379.2:c.3114_3117delinsGA | ENSP00000496570.2:p.Ala1039LysfsTer6 | |
| ENST00000644555.2:c.647-1385_647-1382delinsGA | ENSP00000494614.2:n.647-1385_647-1382delinsGA | |
| ENST00000652672.2:c.2973_2976delinsGA | ENSP00000498906.2:p.Ala992LysfsTer6 | |
| ENST00000484087.6:c.665-1385_665-1382delinsGA | ENSP00000419481.2:n.665-1385_665-1382delinsGA | |
| ENST00000700182.1:c.707-1385_707-1382delinsGA | ENSP00000514849.1:n.707-1385_707-1382delinsGA | |
| ENST00000357654.9:c.3114_3117delinsGA MANE Select | ENSP00000350283.3:p.Ala1039LysfsTer6 | |
| ENST00000471181.7:c.3114_3117delinsGA | ENSP00000418960.2:p.Ala1039LysfsTer6 | |
| ENST00000352993.7:c.671-1385_671-1382delinsGA | ENSP00000312236.5:n.671-1385_671-1382delinsGA | |
| ENST00000354071.7:c.3114_3117delinsGA | ENSP00000326002.7:p.Ala1039LysfsTer6 | |
| ENST00000357654.7:c.3114_3117delinsGA | ENSP00000350283.3:p.Ala1039LysfsTer6 | |
| ENST00000461221.5:c.*2897_*2900delinsGA | ENSP00000418548.1:n.*2897_*2900delinsGA | |
| ENST00000468300.5:c.788-1385_788-1382delinsGA | ENSP00000417148.1:n.788-1385_788-1382delinsGA | |
| ENST00000471181.6:c.3114_3117delinsGA | ENSP00000418960.2:p.Ala1039LysfsTer6 | |
| ENST00000478531.5:c.785-1385_785-1382delinsGA | ENSP00000420412.1:n.785-1385_785-1382delinsGA | |
| ENST00000484087.5:c.410-1385_410-1382delinsGA | ENSP00000419481.1:n.410-1385_410-1382delinsGA | |
| ENST00000487825.5:c.413-1385_413-1382delinsGA | ENSP00000418212.1:n.413-1385_413-1382delinsGA | |
| ENST00000491747.6:c.788-1385_788-1382delinsGA | ENSP00000420705.2:n.788-1385_788-1382delinsGA | |
| ENST00000493795.5:c.2973_2976delinsGA | ENSP00000418775.1:p.Ala992LysfsTer6 | |
| ENST00000493919.5:c.647-1385_647-1382delinsGA | ENSP00000418819.1:n.647-1385_647-1382delinsGA | |
| ENST00000586385.5:c.5-28466_5-28463delinsGA | ENSP00000465818.1:n.5-28466_5-28463delinsGA | |
| ENST00000591534.5:c.-43-17896_-43-17893delinsGA | ENSP00000467329.1:n.-43-17896_-43-17893delinsGA | |
| ENST00000591849.5:c.-99+32854_-99+32857delinsGA | ENSP00000465347.1:n.-99+32854_-99+32857delinsGA | |
| NM_007294.3:c.3114_3117delinsGA , LRG_292t1:c.3114_3117delinsGA | NP_009225.1:p.Ala1039LysfsTer6 | |
| NM_007297.3:c.2973_2976delinsGA | NP_009228.2:p.Ala992LysfsTer6 | |
| NM_007298.3:c.788-1385_788-1382delinsGA | NP_009229.2:n.788-1385_788-1382delinsGA | |
| NM_007299.3:c.788-1385_788-1382delinsGA | NP_009230.2:n.788-1385_788-1382delinsGA | |
| NM_007300.3:c.3114_3117delinsGA | NP_009231.2:p.Ala1039LysfsTer6 | |
| NR_027676.1:n.3250_3253delinsGA | ||
| NM_007294.4:c.3114_3117delinsGA MANE Select | NP_009225.1:p.Ala1039LysfsTer6 | |
| NM_007297.4:c.2973_2976delinsGA | NP_009228.2:p.Ala992LysfsTer6 | |
| NM_007299.4:c.788-1385_788-1382delinsGA | NP_009230.2:n.788-1385_788-1382delinsGA | |
| NM_007300.4:c.3114_3117delinsGA | NP_009231.2:p.Ala1039LysfsTer6 | |
| NR_027676.2:n.3291_3294delinsGA |