Canonical Allele Identifier: CA1978915736

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64751286_64751287delinsAG , CM000673.2:g.64751286_64751287delinsAG	GRCh38
NC_000011.9:g.64518758_64518759delinsAG , CM000673.1:g.64518758_64518759delinsAG	GRCh37
NC_000011.8:g.64275334_64275335delinsAG	NCBI36
NG_013018.1:g.14429_14430delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1969+38_1969+39delinsCT MANE Select	ENSP00000164139.3:n.1969+38_1969+39delinsCT
ENST00000164139.3:c.1969+38_1969+39delinsCT	ENSP00000164139.3:n.1969+38_1969+39delinsCT
ENST00000377432.7:c.1705+38_1705+39delinsCT	ENSP00000366650.3:n.1705+38_1705+39delinsCT
ENST00000462303.1:n.331_332delinsCT
NM_001164716.1:c.1705+38_1705+39delinsCT	NP_001158188.1:n.1705+38_1705+39delinsCT
NM_005609.2:c.1969+38_1969+39delinsCT	NP_005600.1:n.1969+38_1969+39delinsCT
NM_005609.3:c.1969+38_1969+39delinsCT	NP_005600.1:n.1969+38_1969+39delinsCT
NM_005609.4:c.1969+38_1969+39delinsCT MANE Select	NP_005600.1:n.1969+38_1969+39delinsCT