Canonical Allele Identifier: CA2259204156

Gene: PGAP3

Linked Data

• dbSNP Id: rs2057315758

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39672257del , CM000679.2:g.39672257del	GRCh38
NC_000017.10:g.37828510del , CM000679.1:g.37828510del	GRCh37
NC_000017.9:g.35082036del	NCBI36
NG_034125.1:g.20814del
NG_042278.1:g.9277del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300658.9:c.*546del MANE Select	ENSP00000300658.4:n.*546del
ENST00000300658.8:c.*546del	ENSP00000300658.4:n.*546del
ENST00000309862.10:n.1894del
ENST00000378011.8:c.*546del	ENSP00000367250.4:n.*546del
ENST00000579146.5:c.*595del	ENSP00000463234.1:n.*595del
ENST00000614824.4:c.*546del	ENSP00000480165.1:n.*546del
ENST00000619169.4:c.435del	ENSP00000478028.1:p.Glu145AspfsTer?
NM_001291726.1:c.*546del	NP_001278655.1:n.*546del
NM_001291728.1:c.*546del	NP_001278657.1:n.*546del
NM_001291730.1:c.*546del	NP_001278659.1:n.*546del
NM_001291732.1:c.*546del	NP_001278661.1:n.*546del
NM_001291733.1:c.*595del	NP_001278662.1:n.*595del
NM_033419.4:c.*546del	NP_219487.3:n.*546del
XM_011525481.1:c.*546del	XP_011523783.1:n.*546del
XM_011525480.2:c.*578del	XP_011523782.1:n.*578del
XM_011525481.2:c.*546del	XP_011523783.1:n.*546del
XR_002958086.1:n.2036del
NM_033419.5:c.*546del MANE Select	NP_219487.3:n.*546del
NM_001291726.2:c.*546del	NP_001278655.1:n.*546del
NM_001291728.2:c.*546del	NP_001278657.1:n.*546del
NM_001291730.2:c.*546del	NP_001278659.1:n.*546del
NM_001291732.2:c.*546del	NP_001278661.1:n.*546del
NM_001291733.2:c.*595del	NP_001278662.1:n.*595del