Canonical Allele Identifier: CA2614199573

Gene: PYGM

Linked Data

• gnomAD v4: 11-64747464-C-CCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747470_64747472dup , CM000673.2:g.64747470_64747472dup	GRCh38
NC_000011.9:g.64514942_64514944dup , CM000673.1:g.64514942_64514944dup	GRCh37
NC_000011.8:g.64271518_64271520dup	NCBI36
NG_007574.1:g.2990_2992dup , LRG_100:g.2990_2992dup
NG_013018.1:g.18249_18251dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2178-109_2178-107dup MANE Select	ENSP00000164139.3:n.2178-109_2178-107dup
ENST00000164139.3:c.2178-109_2178-107dup	ENSP00000164139.3:n.2178-109_2178-107dup
ENST00000377432.7:c.1914-109_1914-107dup	ENSP00000366650.3:n.1914-109_1914-107dup
ENST00000483742.1:n.1422_1424dup
NM_001164716.1:c.1914-109_1914-107dup	NP_001158188.1:n.1914-109_1914-107dup
NM_005609.2:c.2178-109_2178-107dup	NP_005600.1:n.2178-109_2178-107dup
NM_005609.3:c.2178-109_2178-107dup	NP_005600.1:n.2178-109_2178-107dup
NM_005609.4:c.2178-109_2178-107dup MANE Select	NP_005600.1:n.2178-109_2178-107dup