Canonical Allele Identifier: CA2580100949

Linked Data

ClinVar Variation Id: 2013719
ClinVar RCV Id: RCV002856561

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949862dup , CM000685.2:g.43949862dup GRCh38
NC_000023.10:g.43809108dup , CM000685.1:g.43809108dup GRCh37
NC_000023.9:g.43694052dup NCBI36
NG_009832.1:g.28814dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.339dup (NDP) MANE Select ENSP00000495972.1:p.Met114HisfsTer?
ENST00000647044.1:c.339dup (NDP) ENSP00000495811.1:p.Met114HisfsTer?
ENST00000378062.5:c.339dup (NDP) ENSP00000367301.5:p.Met114HisfsTer?
ENST00000470584.1:n.383dup (NDP)
NM_000266.3:c.339dup (NDP) NP_000257.1:p.Met114HisfsTer?
NR_046631.1:n.131dup (NDP-AS1)
NM_000266.4:c.339dup (NDP) MANE Select NP_000257.1:p.Met114HisfsTer?