Canonical Allele Identifier: CA2259204154
Gene: PGAP3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39672256_39672257delinsAC , CM000679.2:g.39672256_39672257delinsAC GRCh38
NC_000017.10:g.37828509_37828510delinsAC , CM000679.1:g.37828509_37828510delinsAC GRCh37
NC_000017.9:g.35082035_35082036delinsAC NCBI36
NG_034125.1:g.20814_20815delinsGT
NG_042278.1:g.9276_9277delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000300658.9:c.*546_*547delinsGT MANE Select ENSP00000300658.4:n.*546_*547delinsGT
ENST00000300658.8:c.*546_*547delinsGT ENSP00000300658.4:n.*546_*547delinsGT
ENST00000309862.10:n.1894_1895delinsGT
ENST00000378011.8:c.*546_*547delinsGT ENSP00000367250.4:n.*546_*547delinsGT
ENST00000579146.5:c.*595_*596delinsGT ENSP00000463234.1:n.*595_*596delinsGT
ENST00000614824.4:c.*546_*547delinsGT ENSP00000480165.1:n.*546_*547delinsGT
ENST00000619169.4:c.435_436delinsGT ENSP00000478028.1:p.Glu145=
NM_001291726.1:c.*546_*547delinsGT NP_001278655.1:n.*546_*547delinsGT
NM_001291728.1:c.*546_*547delinsGT NP_001278657.1:n.*546_*547delinsGT
NM_001291730.1:c.*546_*547delinsGT NP_001278659.1:n.*546_*547delinsGT
NM_001291732.1:c.*546_*547delinsGT NP_001278661.1:n.*546_*547delinsGT
NM_001291733.1:c.*595_*596delinsGT NP_001278662.1:n.*595_*596delinsGT
NM_033419.4:c.*546_*547delinsGT NP_219487.3:n.*546_*547delinsGT
XM_011525481.1:c.*546_*547delinsGT XP_011523783.1:n.*546_*547delinsGT
XM_011525480.2:c.*578_*579delinsGT XP_011523782.1:n.*578_*579delinsGT
XM_011525481.2:c.*546_*547delinsGT XP_011523783.1:n.*546_*547delinsGT
XR_002958086.1:n.2036_2037delinsGT
NM_033419.5:c.*546_*547delinsGT MANE Select NP_219487.3:n.*546_*547delinsGT
NM_001291726.2:c.*546_*547delinsGT NP_001278655.1:n.*546_*547delinsGT
NM_001291728.2:c.*546_*547delinsGT NP_001278657.1:n.*546_*547delinsGT
NM_001291730.2:c.*546_*547delinsGT NP_001278659.1:n.*546_*547delinsGT
NM_001291732.2:c.*546_*547delinsGT NP_001278661.1:n.*546_*547delinsGT
NM_001291733.2:c.*595_*596delinsGT NP_001278662.1:n.*595_*596delinsGT