Canonical Allele Identifier: CA2598076966

Gene: PYGM

Linked Data

• dbSNP Id: rs2135824696
• gnomAD v3: 11-64747562-CTG-C
• gnomAD v4: 11-64747562-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747563_64747564del , CM000673.2:g.64747563_64747564del	GRCh38
NC_000011.9:g.64515035_64515036del , CM000673.1:g.64515035_64515036del	GRCh37
NC_000011.8:g.64271611_64271612del	NCBI36
NG_007574.1:g.2893_2894del , LRG_100:g.2893_2894del
NG_013018.1:g.18152_18153del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2178-206_2178-205del MANE Select	ENSP00000164139.3:n.2178-206_2178-205del
ENST00000164139.3:c.2178-206_2178-205del	ENSP00000164139.3:n.2178-206_2178-205del
ENST00000377432.7:c.1914-206_1914-205del	ENSP00000366650.3:n.1914-206_1914-205del
ENST00000483742.1:n.1325_1326del
NM_001164716.1:c.1914-206_1914-205del	NP_001158188.1:n.1914-206_1914-205del
NM_005609.2:c.2178-206_2178-205del	NP_005600.1:n.2178-206_2178-205del
NM_005609.3:c.2178-206_2178-205del	NP_005600.1:n.2178-206_2178-205del
NM_005609.4:c.2178-206_2178-205del MANE Select	NP_005600.1:n.2178-206_2178-205del