Canonical Allele Identifier: CA2523948165

Gene: PGAP3

Linked Data

• gnomAD v4: 17-39672010-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39672012del , CM000679.2:g.39672012del	GRCh38
NC_000017.10:g.37828265del , CM000679.1:g.37828265del	GRCh37
NC_000017.9:g.35081791del	NCBI36
NG_034125.1:g.21060del
NG_042278.1:g.9032del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300658.9:c.*792del MANE Select	ENSP00000300658.4:n.*792del
ENST00000300658.8:c.*792del	ENSP00000300658.4:n.*792del
ENST00000309862.10:n.2140del
ENST00000378011.8:c.*792del	ENSP00000367250.4:n.*792del
ENST00000579146.5:c.*841del	ENSP00000463234.1:n.*841del
ENST00000614824.4:c.*792del	ENSP00000480165.1:n.*792del
ENST00000619169.4:c.681del	ENSP00000478028.1:p.Arg227SerfsTer18
NM_001291726.1:c.*792del	NP_001278655.1:n.*792del
NM_001291728.1:c.*792del	NP_001278657.1:n.*792del
NM_001291730.1:c.*792del	NP_001278659.1:n.*792del
NM_001291732.1:c.*792del	NP_001278661.1:n.*792del
NM_001291733.1:c.*841del	NP_001278662.1:n.*841del
NM_033419.4:c.*792del	NP_219487.3:n.*792del
XM_011525480.2:c.*824del	XP_011523782.1:n.*824del
XM_011525481.2:c.*792del	XP_011523783.1:n.*792del
XR_002958086.1:n.2282del
NM_033419.5:c.*792del MANE Select	NP_219487.3:n.*792del
NM_001291726.2:c.*792del	NP_001278655.1:n.*792del
NM_001291728.2:c.*792del	NP_001278657.1:n.*792del
NM_001291730.2:c.*792del	NP_001278659.1:n.*792del
NM_001291732.2:c.*792del	NP_001278661.1:n.*792del
NM_001291733.2:c.*841del	NP_001278662.1:n.*841del