Canonical Allele Identifier: CA1978919777

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64752961_64752962delinsAT , CM000673.2:g.64752961_64752962delinsAT	GRCh38
NC_000011.9:g.64520433_64520434delinsAT , CM000673.1:g.64520433_64520434delinsAT	GRCh37
NC_000011.8:g.64277009_64277010delinsAT	NCBI36
NG_013018.1:g.12754_12755delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1518+111_1518+112delinsAT MANE Select	ENSP00000164139.3:n.1518+111_1518+112delinsAT
ENST00000164139.3:c.1518+111_1518+112delinsAT	ENSP00000164139.3:n.1518+111_1518+112delinsAT
ENST00000377432.7:c.1254+111_1254+112delinsAT	ENSP00000366650.3:n.1254+111_1254+112delinsAT
NM_001164716.1:c.1254+111_1254+112delinsAT	NP_001158188.1:n.1254+111_1254+112delinsAT
NM_005609.2:c.1518+111_1518+112delinsAT	NP_005600.1:n.1518+111_1518+112delinsAT
NM_005609.3:c.1518+111_1518+112delinsAT	NP_005600.1:n.1518+111_1518+112delinsAT
NM_005609.4:c.1518+111_1518+112delinsAT MANE Select	NP_005600.1:n.1518+111_1518+112delinsAT