Linked Data
ClinVar Variation Id:
37481
dbSNP Id:
rs80357596
gnomAD v3:
17-43092848-GTTTC-G
gnomAD v4:
17-43092848-GTTTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43092852_43092855del , CM000679.2:g.43092852_43092855del | GRCh38 |
| NC_000017.10:g.41244869_41244872del , CM000679.1:g.41244869_41244872del | GRCh37 |
| NC_000017.9:g.38498395_38498398del | NCBI36 |
| NG_005905.2:g.125132_125135del , LRG_292:g.125132_125135del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.2743_2746del | ||
| ENST00000461574.2:c.2679_2682del | ENSP00000417241.2:p.Lys893AsnfsTer? | |
| ENST00000470026.6:c.2679_2682del | ENSP00000419274.2:p.Lys893AsnfsTer? | |
| ENST00000473961.6:c.2553_2556del | ENSP00000420201.2:p.Lys851AsnfsTer? | |
| ENST00000476777.6:c.2676_2679del | ENSP00000417554.2:p.Lys892AsnfsTer? | |
| ENST00000477152.6:c.2601_2604del | ENSP00000419988.2:p.Lys867AsnfsTer? | |
| ENST00000478531.6:c.785-1820_785-1817del | ENSP00000420412.2:n.785-1820_785-1817del | |
| ENST00000489037.2:c.2601_2604del | ENSP00000420781.2:p.Lys867AsnfsTer? | |
| ENST00000493919.6:c.647-1820_647-1817del | ENSP00000418819.2:n.647-1820_647-1817del | |
| ENST00000494123.6:c.2679_2682del | ENSP00000419103.2:p.Lys893AsnfsTer? | |
| ENST00000497488.2:c.1791_1794del | ENSP00000418986.2:p.Lys597AsnfsTer? | |
| ENST00000618469.2:c.2679_2682del | ENSP00000478114.2:p.Lys893AsnfsTer? | |
| ENST00000634433.2:c.2556_2559del | ENSP00000489431.2:p.Lys852AsnfsTer? | |
| ENST00000644379.2:c.2679_2682del | ENSP00000496570.2:p.Lys893AsnfsTer? | |
| ENST00000644555.2:c.647-1820_647-1817del | ENSP00000494614.2:n.647-1820_647-1817del | |
| ENST00000652672.2:c.2538_2541del | ENSP00000498906.2:p.Lys846AsnfsTer? | |
| ENST00000484087.6:c.665-1820_665-1817del | ENSP00000419481.2:n.665-1820_665-1817del | |
| ENST00000700182.1:c.707-1820_707-1817del | ENSP00000514849.1:n.707-1820_707-1817del | |
| ENST00000357654.9:c.2679_2682del MANE Select | ENSP00000350283.3:p.Lys893AsnfsTer? | |
| ENST00000471181.7:c.2679_2682del | ENSP00000418960.2:p.Lys893AsnfsTer? | |
| ENST00000352993.7:c.671-1820_671-1817del | ENSP00000312236.5:n.671-1820_671-1817del | |
| ENST00000354071.7:c.2679_2682del | ENSP00000326002.7:p.Lys893AsnfsTer? | |
| ENST00000357654.7:c.2679_2682del | ENSP00000350283.3:p.Lys893AsnfsTer? | |
| ENST00000461221.5:c.*2462_*2465del | ENSP00000418548.1:n.*2462_*2465del | |
| ENST00000468300.5:c.788-1820_788-1817del | ENSP00000417148.1:n.788-1820_788-1817del | |
| ENST00000471181.6:c.2679_2682del | ENSP00000418960.2:p.Lys893AsnfsTer? | |
| ENST00000478531.5:c.785-1820_785-1817del | ENSP00000420412.1:n.785-1820_785-1817del | |
| ENST00000484087.5:c.410-1820_410-1817del | ENSP00000419481.1:n.410-1820_410-1817del | |
| ENST00000487825.5:c.413-1820_413-1817del | ENSP00000418212.1:n.413-1820_413-1817del | |
| ENST00000491747.6:c.788-1820_788-1817del | ENSP00000420705.2:n.788-1820_788-1817del | |
| ENST00000493795.5:c.2538_2541del | ENSP00000418775.1:p.Lys846AsnfsTer? | |
| ENST00000493919.5:c.647-1820_647-1817del | ENSP00000418819.1:n.647-1820_647-1817del | |
| ENST00000586385.5:c.5-28901_5-28898del | ENSP00000465818.1:n.5-28901_5-28898del | |
| ENST00000591534.5:c.-43-18331_-43-18328del | ENSP00000467329.1:n.-43-18331_-43-18328de... | |
| ENST00000591849.5:c.-99+32419_-99+32422del | ENSP00000465347.1:n.-99+32419_-99+32422de... | |
| NM_007294.3:c.2679_2682del , LRG_292t1:c.2679_2682del | NP_009225.1:p.Lys893AsnfsTer? | |
| NM_007297.3:c.2538_2541del | NP_009228.2:p.Lys846AsnfsTer? | |
| NM_007298.3:c.788-1820_788-1817del | NP_009229.2:n.788-1820_788-1817del | |
| NM_007299.3:c.788-1820_788-1817del | NP_009230.2:n.788-1820_788-1817del | |
| NM_007300.3:c.2679_2682del | NP_009231.2:p.Lys893AsnfsTer? | |
| NR_027676.1:n.2815_2818del | ||
| NM_007294.4:c.2679_2682del MANE Select | NP_009225.1:p.Lys893AsnfsTer? | |
| NM_007297.4:c.2538_2541del | NP_009228.2:p.Lys846AsnfsTer? | |
| NM_007299.4:c.788-1820_788-1817del | NP_009230.2:n.788-1820_788-1817del | |
| NM_007300.4:c.2679_2682del | NP_009231.2:p.Lys893AsnfsTer? | |
| NR_027676.2:n.2856_2859del |