Canonical Allele Identifier: CA645605432
Gene: HRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49154455_49154456insCAT , CM000681.2:g.49154455_49154456insCAT GRCh38
NC_000019.9:g.49657712_49657713insCAT , CM000681.1:g.49657712_49657713insCAT GRCh37
NC_000019.8:g.54349524_54349525insCAT NCBI36
NG_027551.1:g.1697_1698insCAT
NG_027551.2:g.1697_1698insCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252825.9:c.782_783insATG MANE Select ENSP00000252825.3:p.Asp261delinsGluCys
ENST00000252825.8:c.782_783insATG ENSP00000252825.3:p.Asp261delinsGluCys
ENST00000595625.1:c.782_783insATG ENSP00000470288.1:p.Asp261delinsGluCys
NM_002152.2:c.782_783insATG NP_002143.1:p.Asp261delinsGluCys
XR_243928.2:n.974_975insATG
XM_017026733.2:c.1004_1005insATG XP_016882222.2:p.Asp335delinsGluCys
NM_002152.3:c.782_783insATG MANE Select NP_002143.1:p.Asp261delinsGluCys