Canonical Allele Identifier: CA599803543

Gene: PYGM

Linked Data

• dbSNP Id: rs1462767117
• gnomAD v2: 11-64514452-CTT-C
• gnomAD v4: 11-64746980-CTT-C
• MyVariant Identifiers: chr11:g.64514453_64514454del (hg19) ; chr11:g.64746981_64746982del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64746982_64746983del , CM000673.2:g.64746982_64746983del	GRCh38
NC_000011.9:g.64514454_64514455del , CM000673.1:g.64514454_64514455del	GRCh37
NC_000011.8:g.64271030_64271031del	NCBI36
NG_007574.1:g.3475_3476del , LRG_100:g.3475_3476del
NG_013018.1:g.18734_18735del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2318_2319del MANE Select	ENSP00000164139.3:p.Lys773SerfsTer6
ENST00000164139.3:c.2318_2319del	ENSP00000164139.3:p.Lys773SerfsTer6
ENST00000377432.7:c.2054_2055del	ENSP00000366650.3:p.Lys685SerfsTer6
ENST00000483742.1:n.1671_1672del
NM_001164716.1:c.2054_2055del	NP_001158188.1:p.Lys685SerfsTer6
NM_005609.2:c.2318_2319del	NP_005600.1:p.Lys773SerfsTer6
NM_005609.3:c.2318_2319del	NP_005600.1:p.Lys773SerfsTer6
NM_005609.4:c.2318_2319del MANE Select	NP_005600.1:p.Lys773SerfsTer6