Canonical Allele Identifier: CA2574864920

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64758570_64758577del , CM000673.2:g.64758570_64758577del	GRCh38
NC_000011.9:g.64526042_64526049del , CM000673.1:g.64526042_64526049del	GRCh37
NC_000011.8:g.64282618_64282625del	NCBI36
NG_013018.1:g.7144_7151del

Transcript Alleles

HGVS	Amino-acid change
ENST00000164139.4:c.345+31_345+38del MANE Select	ENSP00000164139.3:n.345+31_345+38del
ENST00000164139.3:c.345+31_345+38del	ENSP00000164139.3:n.345+31_345+38del
ENST00000377432.7:c.244-306_244-299del	ENSP00000366650.3:n.244-306_244-299del
NM_001164716.1:c.244-306_244-299del	NP_001158188.1:n.244-306_244-299del
NM_005609.2:c.345+31_345+38del	NP_005600.1:n.345+31_345+38del
NM_005609.3:c.345+31_345+38del	NP_005600.1:n.345+31_345+38del
NM_005609.4:c.345+31_345+38del MANE Select	NP_005600.1:n.345+31_345+38del