Canonical Allele Identifier: CA2724511804

Gene: PYGM

Linked Data

• dbSNP Id: rs2135831899

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64752841_64752859del , CM000673.2:g.64752841_64752859del	GRCh38
NC_000011.9:g.64520313_64520331del , CM000673.1:g.64520313_64520331del	GRCh37
NC_000011.8:g.64276889_64276907del	NCBI36
NG_013018.1:g.12861_12879del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1518+218_1518+236del MANE Select	ENSP00000164139.3:n.1518+218_1518+236del
ENST00000164139.3:c.1518+218_1518+236del	ENSP00000164139.3:n.1518+218_1518+236del
ENST00000377432.7:c.1254+218_1254+236del	ENSP00000366650.3:n.1254+218_1254+236del
NM_001164716.1:c.1254+218_1254+236del	NP_001158188.1:n.1254+218_1254+236del
NM_005609.2:c.1518+218_1518+236del	NP_005600.1:n.1518+218_1518+236del
NM_005609.3:c.1518+218_1518+236del	NP_005600.1:n.1518+218_1518+236del
NM_005609.4:c.1518+218_1518+236del MANE Select	NP_005600.1:n.1518+218_1518+236del