Canonical Allele Identifier: CA23831903

Gene: PGM1

Linked Data

• dbSNP Id: rs538181566
• gnomAD v2: 1-64094998-A-AT
• gnomAD v3: 1-63629327-A-AT
• gnomAD v4: 1-63629327-A-AT
• MyVariant Identifiers: chr1:g.64094998_64094999insT (hg19) ; chr1:g.63629327_63629328insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63629334dup , CM000663.2:g.63629334dup	GRCh38
NC_000001.10:g.64095005dup , CM000663.1:g.64095005dup	GRCh37
NC_000001.9:g.63867593dup	NCBI36
NG_016966.1:g.41059dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.247-91dup MANE Select	ENSP00000360125.3:n.247-91dup
ENST00000650546.1:c.247-91dup	ENSP00000497812.1:n.247-91dup
ENST00000371083.4:c.301-91dup	ENSP00000360124.4:n.301-91dup
ENST00000371084.7:c.247-91dup	ENSP00000360125.3:n.247-91dup
ENST00000540265.5:c.-345-91dup	ENSP00000443449.1:n.-345-91dup
NM_001172818.1:c.301-91dup	NP_001166289.1:n.301-91dup
NM_001172819.1:c.-345-91dup	NP_001166290.1:n.-345-91dup
NM_002633.2:c.247-91dup	NP_002624.2:n.247-91dup
NM_002633.3:c.247-91dup MANE Select	NP_002624.2:n.247-91dup
NM_001172819.2:c.-345-91dup	NP_001166290.1:n.-345-91dup