Canonical Allele Identifier: CA1171568799

Gene: PGM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63623768_63623771delinsTATG , CM000663.2:g.63623768_63623771delinsTATG	GRCh38
NC_000001.10:g.64089439_64089442delinsTATG , CM000663.1:g.64089439_64089442delinsTATG	GRCh37
NC_000001.9:g.63862027_63862030delinsTATG	NCBI36
NG_016966.1:g.35493_35496delinsTATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.247-5657_247-5654delinsTATG MANE Select	ENSP00000360125.3:n.247-5657_247-5654delinsTATG
ENST00000650546.1:c.247-5657_247-5654delinsTATG	ENSP00000497812.1:n.247-5657_247-5654delinsTATG
ENST00000371083.4:c.300+8_300+11delinsTATG	ENSP00000360124.4:n.300+8_300+11delinsTATG
ENST00000371084.7:c.247-5657_247-5654delinsTATG	ENSP00000360125.3:n.247-5657_247-5654delinsTATG
ENST00000540265.5:c.-345-5657_-345-5654delinsTATG	ENSP00000443449.1:n.-345-5657_-345-5654delinsTATG
NM_001172818.1:c.300+8_300+11delinsTATG	NP_001166289.1:n.300+8_300+11delinsTATG
NM_001172819.1:c.-345-5657_-345-5654delinsTATG	NP_001166290.1:n.-345-5657_-345-5654delinsTATG
NM_002633.2:c.247-5657_247-5654delinsTATG	NP_002624.2:n.247-5657_247-5654delinsTATG
NM_002633.3:c.247-5657_247-5654delinsTATG MANE Select	NP_002624.2:n.247-5657_247-5654delinsTATG
NM_001172819.2:c.-345-5657_-345-5654delinsTATG	NP_001166290.1:n.-345-5657_-345-5654delinsTATG