Canonical Allele Identifier: CA915940517

Linked Data

ClinVar Variation Id: 1186733
ClinVar RCV Id: RCV001545933
dbSNP Id: rs2147204705

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949867del , CM000685.2:g.43949867del GRCh38
NC_000023.10:g.43809113del , CM000685.1:g.43809113del GRCh37
NC_000023.9:g.43694057del NCBI36
NG_009832.1:g.28813del

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.338del (NDP) MANE Select ENSP00000495972.1:p.Gly113AlafsTer?
ENST00000647044.1:c.338del (NDP) ENSP00000495811.1:p.Gly113AlafsTer?
ENST00000378062.5:c.338del (NDP) ENSP00000367301.5:p.Gly113AlafsTer?
ENST00000470584.1:n.382del (NDP)
NM_000266.3:c.338del (NDP) NP_000257.1:p.Gly113AlafsTer?
NR_046631.1:n.136del (NDP-AS1)
NM_000266.4:c.338del (NDP) MANE Select NP_000257.1:p.Gly113AlafsTer?