Canonical Allele Identifier: CA2614199536

Gene: PYGM

Linked Data

• gnomAD v4: 11-64747432-TCCCATG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747436_64747441del , CM000673.2:g.64747436_64747441del	GRCh38
NC_000011.9:g.64514908_64514913del , CM000673.1:g.64514908_64514913del	GRCh37
NC_000011.8:g.64271484_64271489del	NCBI36
NG_007574.1:g.3019_3024del , LRG_100:g.3019_3024del
NG_013018.1:g.18278_18283del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2178-80_2178-75del MANE Select	ENSP00000164139.3:n.2178-80_2178-75del
ENST00000164139.3:c.2178-80_2178-75del	ENSP00000164139.3:n.2178-80_2178-75del
ENST00000377432.7:c.1914-80_1914-75del	ENSP00000366650.3:n.1914-80_1914-75del
ENST00000483742.1:n.1451_1456del
NM_001164716.1:c.1914-80_1914-75del	NP_001158188.1:n.1914-80_1914-75del
NM_005609.2:c.2178-80_2178-75del	NP_005600.1:n.2178-80_2178-75del
NM_005609.3:c.2178-80_2178-75del	NP_005600.1:n.2178-80_2178-75del
NM_005609.4:c.2178-80_2178-75del MANE Select	NP_005600.1:n.2178-80_2178-75del