Linked Data
ClinVar Variation Id:
371648
ClinVar RCV Id:
RCV000412019
dbSNP Id:
rs1057517439
gnomAD v4:
3-165830923-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165830926del , CM000665.2:g.165830926del | GRCh38 |
| NC_000003.11:g.165548714del , CM000665.1:g.165548714del | GRCh37 |
| NC_000003.10:g.167031408del | NCBI36 |
| NG_009031.1:g.11542del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264381.8:c.110del MANE Select | ENSP00000264381.3:p.Lys37ArgfsTer8 | |
| ENST00000264381.7:c.110del | ENSP00000264381.3:p.Lys37ArgfsTer8 | |
| ENST00000479451.5:c.107+6390del | ENSP00000418325.1:n.107+6390del | |
| ENST00000482958.1:c.110del | ENSP00000419804.1:p.Lys37ArgfsTer8 | |
| ENST00000488954.1:c.107+6390del | ENSP00000418504.1:n.107+6390del | |
| ENST00000497011.5:c.110del | ENSP00000419505.1:p.Lys37ArgfsTer8 | |
| NM_000055.2:c.110del | NP_000046.1:p.Lys37ArgfsTer8 | |
| XM_005247685.1:c.233del | XP_005247742.1:p.Lys78ArgfsTer8 | |
| NM_000055.3:c.110del | NP_000046.1:p.Lys37ArgfsTer8 | |
| NR_137635.1:n.159+6390del | ||
| NR_137636.1:n.277del | ||
| NM_000055.4:c.110del MANE Select | NP_000046.1:p.Lys37ArgfsTer8 | |
| NR_137635.2:n.110+6390del | ||
| NR_137636.2:n.228del |