Canonical Allele Identifier: CA1171571014

Gene: PGM1

Linked Data

• dbSNP Id: rs1649123524
• gnomAD v4: 1-63629288-TAAATA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63629293_63629297del , CM000663.2:g.63629293_63629297del	GRCh38
NC_000001.10:g.64094964_64094968del , CM000663.1:g.64094964_64094968del	GRCh37
NC_000001.9:g.63867552_63867556del	NCBI36
NG_016966.1:g.41018_41022del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.247-132_247-128del MANE Select	ENSP00000360125.3:n.247-132_247-128del
ENST00000650546.1:c.247-132_247-128del	ENSP00000497812.1:n.247-132_247-128del
ENST00000371083.4:c.301-132_301-128del	ENSP00000360124.4:n.301-132_301-128del
ENST00000371084.7:c.247-132_247-128del	ENSP00000360125.3:n.247-132_247-128del
ENST00000540265.5:c.-345-132_-345-128del	ENSP00000443449.1:n.-345-132_-345-128del
NM_001172818.1:c.301-132_301-128del	NP_001166289.1:n.301-132_301-128del
NM_001172819.1:c.-345-132_-345-128del	NP_001166290.1:n.-345-132_-345-128del
NM_002633.2:c.247-132_247-128del	NP_002624.2:n.247-132_247-128del
NM_002633.3:c.247-132_247-128del MANE Select	NP_002624.2:n.247-132_247-128del
NM_001172819.2:c.-345-132_-345-128del	NP_001166290.1:n.-345-132_-345-128del