Linked Data
ClinVar Variation Id:
637272
ClinVar RCV Id:
RCV000789349
dbSNP Id:
rs1594431701
gnomAD v4:
11-68917803-GAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68917806_68917807del , CM000673.2:g.68917806_68917807del | GRCh38 |
| NC_000011.9:g.68685274_68685275del , CM000673.1:g.68685274_68685275del | GRCh37 |
| NC_000011.8:g.68441850_68441851del | NCBI36 |
| NG_007976.1:g.18956_18957del , LRG_250:g.18956_18957del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.983_984del MANE Select | ENSP00000255078.4:p.Lys328ArgfsTer? | |
| ENST00000674745.1:c.71_72del | ENSP00000502738.1:p.Lys24ArgfsTer? | |
| ENST00000674775.1:n.71_72del | ||
| ENST00000674955.1:c.983_984del | ENSP00000502463.1:p.Lys328ArgfsTer? | |
| ENST00000675118.1:c.471_472del | ||
| ENST00000675119.1:c.410_411del | ENSP00000501861.1:n.410_411del | |
| ENST00000675305.1:c.303_304del | ENSP00000502365.1:n.303_304del | |
| ENST00000675464.1:c.266_267del | ENSP00000502650.1:p.Lys89ArgfsTer? | |
| ENST00000675493.1:n.71_72del | ||
| ENST00000675615.1:c.983_984del | ENSP00000502413.1:p.Lys328ArgfsTer? | |
| ENST00000675648.1:n.358_359del | ||
| ENST00000675683.1:c.370_371del | ||
| ENST00000675684.1:c.71_72del | ENSP00000502192.1:p.Lys24ArgfsTer? | |
| ENST00000676173.1:n.1027_1028del | ||
| ENST00000676228.1:c.*306_*307del | ENSP00000502375.1:n.*306_*307del | |
| ENST00000255078.7:c.983_984del | ENSP00000255078.3:p.Lys328ArgfsTer? | |
| NM_002180.2:c.983_984del , LRG_250t1:c.983_984del | NP_002171.2:p.Lys328ArgfsTer? | |
| XM_005273974.2:c.-29_-28del | XP_005274031.1:n.-29_-28del | |
| XM_005273976.1:c.983_984del | XP_005274033.1:p.Lys328ArgfsTer? | |
| XR_247198.1:n.1085_1086del | ||
| XR_949903.1:n.1085_1086del | ||
| XM_005273976.2:c.983_984del | XP_005274033.1:p.Lys328ArgfsTer? | |
| XM_017017669.2:c.-29_-28del | XP_016873158.1:n.-29_-28del | |
| XM_017017670.2:c.-29_-28del | XP_016873159.1:n.-29_-28del | |
| XM_017017671.2:c.983_984del | XP_016873160.1:p.Lys328ArgfsTer? | |
| XR_949903.3:n.1081_1082del | ||
| NM_002180.3:c.983_984del MANE Select | NP_002171.2:p.Lys328ArgfsTer? |