Canonical Allele Identifier: CA737795902

Gene: PGM1 ITGB3BP

Linked Data

• dbSNP Id: rs1281646469
• MyVariant Identifiers: chr1:g.64059117_64059144del (hg19) ; chr1:g.63593446_63593473del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63593450_63593477del , CM000663.2:g.63593450_63593477del	GRCh38
NC_000001.10:g.64059121_64059148del , CM000663.1:g.64059121_64059148del	GRCh37
NC_000001.9:g.63831709_63831736del	NCBI36
NG_016966.1:g.5175_5202del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.-39_-12del (PGM1) MANE Select	ENSP00000360125.3:n.-39_-12del
ENST00000650546.1:c.-39_-12del (PGM1)	ENSP00000497812.1:n.-39_-12del
ENST00000371084.7:c.-39_-12del (PGM1)	ENSP00000360125.3:n.-39_-12del
ENST00000478138.1:n.197+52_197+79del (ITGB3BP)
NM_002633.2:c.-39_-12del (PGM1)	NP_002624.2:n.-39_-12del
NM_002633.3:c.-39_-12del (PGM1) MANE Select	NP_002624.2:n.-39_-12del