Canonical Allele Identifier: CA2259210979

Gene: PGAP3

Linked Data

• dbSNP Id: rs2057589741
• gnomAD v4: 17-39687880-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39687881del , CM000679.2:g.39687881del	GRCh38
NC_000017.10:g.37844134del , CM000679.1:g.37844134del	GRCh37
NC_000017.9:g.35097660del	NCBI36
NG_007503.1:g.4742del , LRG_724:g.4742del
NG_034125.1:g.5190del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300658.9:c.134del MANE Select	ENSP00000300658.4:p.Ala45ValfsTer2
ENST00000300658.8:c.134del	ENSP00000300658.4:p.Ala45ValfsTer2
ENST00000309862.10:n.177del
ENST00000378011.8:c.134del	ENSP00000367250.4:p.Ala45ValfsTer2
ENST00000429199.6:c.134del	ENSP00000415765.2:p.Ala45ValfsTer2
ENST00000579146.5:c.134del	ENSP00000463234.1:p.Ala45ValfsTer2
ENST00000582276.1:n.169del
ENST00000584620.5:c.121del
ENST00000584856.1:c.-35-1862del	ENSP00000463785.1:n.-35-1862del
ENST00000614824.4:c.134del	ENSP00000480165.1:p.Ala45ValfsTer2
NM_001291726.1:c.134del	NP_001278655.1:p.Ala45ValfsTer2
NM_001291728.1:c.134del	NP_001278657.1:p.Ala45ValfsTer2
NM_001291730.1:c.134del	NP_001278659.1:p.Ala45ValfsTer2
NM_001291732.1:c.134del	NP_001278661.1:p.Ala45ValfsTer2
NM_001291733.1:c.134del	NP_001278662.1:p.Ala45ValfsTer2
NM_033419.4:c.134del	NP_219487.3:p.Ala45ValfsTer2
XM_011525480.1:c.134del	XP_011523782.1:p.Ala45ValfsTer2
XM_011525481.1:c.-354del	XP_011523783.1:n.-354del
XR_934601.1:n.177del
XM_011525480.2:c.134del	XP_011523782.1:p.Ala45ValfsTer2
XM_011525481.2:c.-354del	XP_011523783.1:n.-354del
XR_002958086.1:n.177del
NM_033419.5:c.134del MANE Select	NP_219487.3:p.Ala45ValfsTer2
NM_001291726.2:c.134del	NP_001278655.1:p.Ala45ValfsTer2
NM_001291728.2:c.134del	NP_001278657.1:p.Ala45ValfsTer2
NM_001291730.2:c.134del	NP_001278659.1:p.Ala45ValfsTer2
NM_001291732.2:c.134del	NP_001278661.1:p.Ala45ValfsTer2
NM_001291733.2:c.134del	NP_001278662.1:p.Ala45ValfsTer2