Canonical Allele Identifier: CA2259203977

Gene: PGAP3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39672021_39672024delinsGACA , CM000679.2:g.39672021_39672024delinsGACA	GRCh38
NC_000017.10:g.37828274_37828277delinsGACA , CM000679.1:g.37828274_37828277delinsGACA	GRCh37
NC_000017.9:g.35081800_35081803delinsGACA	NCBI36
NG_034125.1:g.21047_21050delinsTGTC
NG_042278.1:g.9041_9044delinsGACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300658.9:c.*779_*782delinsTGTC MANE Select	ENSP00000300658.4:n.*779_*782delinsTGTC
ENST00000300658.8:c.*779_*782delinsTGTC	ENSP00000300658.4:n.*779_*782delinsTGTC
ENST00000309862.10:n.2127_2130delinsTGTC
ENST00000378011.8:c.*779_*782delinsTGTC	ENSP00000367250.4:n.*779_*782delinsTGTC
ENST00000579146.5:c.*828_*831delinsTGTC	ENSP00000463234.1:n.*828_*831delinsTGTC
ENST00000614824.4:c.*779_*782delinsTGTC	ENSP00000480165.1:n.*779_*782delinsTGTC
ENST00000619169.4:c.668_671delinsTGTC	ENSP00000478028.1:p.Leu223=
NM_001291726.1:c.*779_*782delinsTGTC	NP_001278655.1:n.*779_*782delinsTGTC
NM_001291728.1:c.*779_*782delinsTGTC	NP_001278657.1:n.*779_*782delinsTGTC
NM_001291730.1:c.*779_*782delinsTGTC	NP_001278659.1:n.*779_*782delinsTGTC
NM_001291732.1:c.*779_*782delinsTGTC	NP_001278661.1:n.*779_*782delinsTGTC
NM_001291733.1:c.*828_*831delinsTGTC	NP_001278662.1:n.*828_*831delinsTGTC
NM_033419.4:c.*779_*782delinsTGTC	NP_219487.3:n.*779_*782delinsTGTC
XM_011525480.2:c.*811_*814delinsTGTC	XP_011523782.1:n.*811_*814delinsTGTC
XM_011525481.2:c.*779_*782delinsTGTC	XP_011523783.1:n.*779_*782delinsTGTC
XR_002958086.1:n.2269_2272delinsTGTC
NM_033419.5:c.*779_*782delinsTGTC MANE Select	NP_219487.3:n.*779_*782delinsTGTC
NM_001291726.2:c.*779_*782delinsTGTC	NP_001278655.1:n.*779_*782delinsTGTC
NM_001291728.2:c.*779_*782delinsTGTC	NP_001278657.1:n.*779_*782delinsTGTC
NM_001291730.2:c.*779_*782delinsTGTC	NP_001278659.1:n.*779_*782delinsTGTC
NM_001291732.2:c.*779_*782delinsTGTC	NP_001278661.1:n.*779_*782delinsTGTC
NM_001291733.2:c.*828_*831delinsTGTC	NP_001278662.1:n.*828_*831delinsTGTC