Canonical Allele Identifier: CA2020953516

Gene:

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21130334C= , CM000674.2:g.21130334C=	GRCh38
NC_000012.11:g.21283268C= , CM000674.1:g.21283268C=	GRCh37
NC_000012.10:g.21174535C=	NCBI36
NG_011745.1:g.4141C= , LRG_1022:g.4141C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000543498.5:c.281-11180C=
ENST00000585342.5:c.371-789C=	ENSP00000467594.1:n.371-789C=
ENST00000590779.5:c.377-789C=
ENST00000592513.1:c.358-789C=
ENST00000593147.5:c.406-789C=	ENSP00000467209.1:n.406-789C=