Linked Data
ClinVar Variation Id:
54681
ClinVar RCV Id:
RCV000111940
dbSNP Id:
rs80357840
gnomAD v2:
17-41244748-GACCA-G
gnomAD v4:
17-43092731-GACCA-G
PubMed:
PMID:9544766
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43092736_43092739del , CM000679.2:g.43092736_43092739del | GRCh38 |
| NC_000017.10:g.41244753_41244756del , CM000679.1:g.41244753_41244756del | GRCh37 |
| NC_000017.9:g.38498279_38498282del | NCBI36 |
| NG_005905.2:g.125249_125252del , LRG_292:g.125249_125252del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.2860_2863del | ||
| ENST00000461574.2:c.2796_2799del | ENSP00000417241.2:p.Gly933ArgfsTer? | |
| ENST00000470026.6:c.2796_2799del | ENSP00000419274.2:p.Gly933ArgfsTer? | |
| ENST00000473961.6:c.2670_2673del | ENSP00000420201.2:p.Gly891ArgfsTer? | |
| ENST00000476777.6:c.2793_2796del | ENSP00000417554.2:p.Gly932ArgfsTer? | |
| ENST00000477152.6:c.2718_2721del | ENSP00000419988.2:p.Gly907ArgfsTer? | |
| ENST00000478531.6:c.785-1703_785-1700del | ENSP00000420412.2:n.785-1703_785-1700del | |
| ENST00000489037.2:c.2718_2721del | ENSP00000420781.2:p.Gly907ArgfsTer? | |
| ENST00000493919.6:c.647-1703_647-1700del | ENSP00000418819.2:n.647-1703_647-1700del | |
| ENST00000494123.6:c.2796_2799del | ENSP00000419103.2:p.Gly933ArgfsTer? | |
| ENST00000497488.2:c.1908_1911del | ENSP00000418986.2:p.Gly637ArgfsTer? | |
| ENST00000618469.2:c.2796_2799del | ENSP00000478114.2:p.Gly933ArgfsTer? | |
| ENST00000634433.2:c.2673_2676del | ENSP00000489431.2:p.Gly892ArgfsTer? | |
| ENST00000644379.2:c.2796_2799del | ENSP00000496570.2:p.Gly933ArgfsTer? | |
| ENST00000644555.2:c.647-1703_647-1700del | ENSP00000494614.2:n.647-1703_647-1700del | |
| ENST00000652672.2:c.2655_2658del | ENSP00000498906.2:p.Gly886ArgfsTer? | |
| ENST00000484087.6:c.665-1703_665-1700del | ENSP00000419481.2:n.665-1703_665-1700del | |
| ENST00000700182.1:c.707-1703_707-1700del | ENSP00000514849.1:n.707-1703_707-1700del | |
| ENST00000357654.9:c.2796_2799del MANE Select | ENSP00000350283.3:p.Gly933ArgfsTer? | |
| ENST00000471181.7:c.2796_2799del | ENSP00000418960.2:p.Gly933ArgfsTer? | |
| ENST00000352993.7:c.671-1703_671-1700del | ENSP00000312236.5:n.671-1703_671-1700del | |
| ENST00000354071.7:c.2796_2799del | ENSP00000326002.7:p.Gly933ArgfsTer? | |
| ENST00000357654.7:c.2796_2799del | ENSP00000350283.3:p.Gly933ArgfsTer? | |
| ENST00000461221.5:c.*2579_*2582del | ENSP00000418548.1:n.*2579_*2582del | |
| ENST00000468300.5:c.788-1703_788-1700del | ENSP00000417148.1:n.788-1703_788-1700del | |
| ENST00000471181.6:c.2796_2799del | ENSP00000418960.2:p.Gly933ArgfsTer? | |
| ENST00000478531.5:c.785-1703_785-1700del | ENSP00000420412.1:n.785-1703_785-1700del | |
| ENST00000484087.5:c.410-1703_410-1700del | ENSP00000419481.1:n.410-1703_410-1700del | |
| ENST00000487825.5:c.413-1703_413-1700del | ENSP00000418212.1:n.413-1703_413-1700del | |
| ENST00000491747.6:c.788-1703_788-1700del | ENSP00000420705.2:n.788-1703_788-1700del | |
| ENST00000493795.5:c.2655_2658del | ENSP00000418775.1:p.Gly886ArgfsTer? | |
| ENST00000493919.5:c.647-1703_647-1700del | ENSP00000418819.1:n.647-1703_647-1700del | |
| ENST00000586385.5:c.5-28784_5-28781del | ENSP00000465818.1:n.5-28784_5-28781del | |
| ENST00000591534.5:c.-43-18214_-43-18211del | ENSP00000467329.1:n.-43-18214_-43-18211del | |
| ENST00000591849.5:c.-99+32536_-99+32539del | ENSP00000465347.1:n.-99+32536_-99+32539del | |
| NM_007294.3:c.2796_2799del , LRG_292t1:c.2796_2799del | NP_009225.1:p.Gly933ArgfsTer? | |
| NM_007297.3:c.2655_2658del | NP_009228.2:p.Gly886ArgfsTer? | |
| NM_007298.3:c.788-1703_788-1700del | NP_009229.2:n.788-1703_788-1700del | |
| NM_007299.3:c.788-1703_788-1700del | NP_009230.2:n.788-1703_788-1700del | |
| NM_007300.3:c.2796_2799del | NP_009231.2:p.Gly933ArgfsTer? | |
| NR_027676.1:n.2932_2935del | ||
| NM_007294.4:c.2796_2799del MANE Select | NP_009225.1:p.Gly933ArgfsTer? | |
| NM_007297.4:c.2655_2658del | NP_009228.2:p.Gly886ArgfsTer? | |
| NM_007299.4:c.788-1703_788-1700del | NP_009230.2:n.788-1703_788-1700del | |
| NM_007300.4:c.2796_2799del | NP_009231.2:p.Gly933ArgfsTer? | |
| NR_027676.2:n.2973_2976del |