Canonical Allele Identifier: CA2573153700
Gene: PGAP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1687230
dbSNP Id: rs2057353122

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39674661dup , CM000679.2:g.39674661dup GRCh38
NC_000017.10:g.37830914dup , CM000679.1:g.37830914dup GRCh37
NC_000017.9:g.35084440dup NCBI36
NG_034125.1:g.18411dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000300658.9:c.452dup MANE Select ENSP00000300658.4:p.Trp152LeufsTer11
ENST00000300658.8:c.452dup ENSP00000300658.4:p.Trp152LeufsTer11
ENST00000309862.10:n.495dup
ENST00000378011.8:c.299dup ENSP00000367250.4:p.Trp101LeufsTer11
ENST00000429199.6:c.433-606dup ENSP00000415765.2:n.433-606dup
ENST00000577337.5:c.264dup ENSP00000464308.1:n.264dup
ENST00000579146.5:c.433-1794dup ENSP00000463234.1:n.433-1794dup
ENST00000580898.5:n.329dup
ENST00000582276.1:n.389dup
ENST00000584620.5:c.581dup
ENST00000614824.4:c.452dup ENSP00000480165.1:p.Trp152LeufsTer11
ENST00000619169.4:c.-486dup ENSP00000478028.1:n.-486dup
NM_001291726.1:c.299dup NP_001278655.1:p.Trp101LeufsTer11
NM_001291728.1:c.433-606dup NP_001278657.1:n.433-606dup
NM_001291730.1:c.452dup NP_001278659.1:p.Trp152LeufsTer11
NM_001291732.1:c.433-606dup NP_001278661.1:n.433-606dup
NM_001291733.1:c.433-1794dup NP_001278662.1:n.433-1794dup
NM_033419.4:c.452dup NP_219487.3:p.Trp152LeufsTer11
XM_011525480.1:c.452dup XP_011523782.1:p.Trp152LeufsTer11
XM_011525481.1:c.107dup XP_011523783.1:p.Trp37LeufsTer11
XR_934601.1:n.637dup
XM_011525480.2:c.452dup XP_011523782.1:p.Trp152LeufsTer11
XM_011525481.2:c.107dup XP_011523783.1:p.Trp37LeufsTer11
XR_002958086.1:n.637dup
NM_033419.5:c.452dup MANE Select NP_219487.3:p.Trp152LeufsTer11
NM_001291726.2:c.299dup NP_001278655.1:p.Trp101LeufsTer11
NM_001291728.2:c.433-606dup NP_001278657.1:n.433-606dup
NM_001291730.2:c.452dup NP_001278659.1:p.Trp152LeufsTer11
NM_001291732.2:c.433-606dup NP_001278661.1:n.433-606dup
NM_001291733.2:c.433-1794dup NP_001278662.1:n.433-1794dup