Canonical Allele Identifier: CA2695233472

Linked Data

ClinVar Variation Id: 2737213
ClinVar RCV Id: RCV003560234

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949868del , CM000685.2:g.43949868del GRCh38
NC_000023.10:g.43809114del , CM000685.1:g.43809114del GRCh37
NC_000023.9:g.43694058del NCBI36
NG_009832.1:g.28808del

Transcript Alleles

HGVS Amino-acid change
ENST00000642620.1:c.333del (NDP) MANE Select ENSP00000495972.1:p.Gly113AlafsTer?
ENST00000647044.1:c.333del (NDP) ENSP00000495811.1:p.Gly113AlafsTer?
ENST00000378062.5:c.333del (NDP) ENSP00000367301.5:p.Gly113AlafsTer?
ENST00000470584.1:n.377del (NDP)
NM_000266.3:c.333del (NDP) NP_000257.1:p.Gly113AlafsTer?
NR_046631.1:n.137del (NDP-AS1)
NM_000266.4:c.333del (NDP) MANE Select NP_000257.1:p.Gly113AlafsTer?