Canonical Allele Identifier: CA2614199837

Gene: PYGM

Linked Data

• gnomAD v4: 11-64747607-CCCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747608_64747610del , CM000673.2:g.64747608_64747610del	GRCh38
NC_000011.9:g.64515080_64515082del , CM000673.1:g.64515080_64515082del	GRCh37
NC_000011.8:g.64271656_64271658del	NCBI36
NG_007574.1:g.2847_2849del , LRG_100:g.2847_2849del
NG_013018.1:g.18106_18108del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2178-252_2178-250del MANE Select	ENSP00000164139.3:n.2178-252_2178-250del
ENST00000164139.3:c.2178-252_2178-250del	ENSP00000164139.3:n.2178-252_2178-250del
ENST00000377432.7:c.1914-252_1914-250del	ENSP00000366650.3:n.1914-252_1914-250del
ENST00000483742.1:n.1279_1281del
NM_001164716.1:c.1914-252_1914-250del	NP_001158188.1:n.1914-252_1914-250del
NM_005609.2:c.2178-252_2178-250del	NP_005600.1:n.2178-252_2178-250del
NM_005609.3:c.2178-252_2178-250del	NP_005600.1:n.2178-252_2178-250del
NM_005609.4:c.2178-252_2178-250del MANE Select	NP_005600.1:n.2178-252_2178-250del