Canonical Allele Identifier: CA2543345901

Gene: PYGM

Linked Data

• gnomAD v4: 11-64750504-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64750505_64750506del , CM000673.2:g.64750505_64750506del	GRCh38
NC_000011.9:g.64517977_64517978del , CM000673.1:g.64517977_64517978del	GRCh37
NC_000011.8:g.64274553_64274554del	NCBI36
NG_013018.1:g.15210_15211del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2047_2048del MANE Select	ENSP00000164139.3:p.Met683AlafsTer?
ENST00000164139.3:c.2047_2048del	ENSP00000164139.3:p.Met683AlafsTer?
ENST00000377432.7:c.1783_1784del	ENSP00000366650.3:p.Met595AlafsTer?
NM_001164716.1:c.1783_1784del	NP_001158188.1:p.Met595AlafsTer?
NM_005609.2:c.2047_2048del	NP_005600.1:p.Met683AlafsTer?
NM_005609.3:c.2047_2048del	NP_005600.1:p.Met683AlafsTer?
NM_005609.4:c.2047_2048del MANE Select	NP_005600.1:p.Met683AlafsTer?