Canonical Allele Identifier: CA2792428407

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747609dup , CM000673.2:g.64747609dup	GRCh38
NC_000011.9:g.64515081dup , CM000673.1:g.64515081dup	GRCh37
NC_000011.8:g.64271657dup	NCBI36
NG_007574.1:g.2852dup , LRG_100:g.2852dup
NG_013018.1:g.18111dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2178-247dup MANE Select	ENSP00000164139.3:n.2178-247dup
ENST00000164139.3:c.2178-247dup	ENSP00000164139.3:n.2178-247dup
ENST00000377432.7:c.1914-247dup	ENSP00000366650.3:n.1914-247dup
ENST00000483742.1:n.1284dup
NM_001164716.1:c.1914-247dup	NP_001158188.1:n.1914-247dup
NM_005609.2:c.2178-247dup	NP_005600.1:n.2178-247dup
NM_005609.3:c.2178-247dup	NP_005600.1:n.2178-247dup
NM_005609.4:c.2178-247dup MANE Select	NP_005600.1:n.2178-247dup