Canonical Allele Identifier: CA2259210852

Gene: PGAP3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39687640_39687644delinsGAACA , CM000679.2:g.39687640_39687644delinsGAACA	GRCh38
NC_000017.10:g.37843893_37843897delinsGAACA , CM000679.1:g.37843893_37843897delinsGAACA	GRCh37
NC_000017.9:g.35097419_35097423delinsGAACA	NCBI36
NG_007503.1:g.4501_4505delinsGAACA , LRG_724:g.4501_4505delinsGAACA
NG_034125.1:g.5427_5431delinsTGTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300658.9:c.181+190_181+194delinsTGTTC MANE Select	ENSP00000300658.4:n.181+190_181+194delinsTGTTC
ENST00000300658.8:c.181+190_181+194delinsTGTTC	ENSP00000300658.4:n.181+190_181+194delinsTGTTC
ENST00000309862.10:n.224+190_224+194delinsTGTTC
ENST00000378011.8:c.181+190_181+194delinsTGTTC	ENSP00000367250.4:n.181+190_181+194delinsTGTTC
ENST00000429199.6:c.181+190_181+194delinsTGTTC	ENSP00000415765.2:n.181+190_181+194delinsTGTTC
ENST00000579146.5:c.181+190_181+194delinsTGTTC	ENSP00000463234.1:n.181+190_181+194delinsTGTTC
ENST00000582276.1:n.216+190_216+194delinsTGTTC
ENST00000584620.5:c.168+190_168+194delinsTGTTC
ENST00000584856.1:c.-35-1625_-35-1621delinsTGTTC	ENSP00000463785.1:n.-35-1625_-35-1621delinsTGTTC
ENST00000614824.4:c.181+190_181+194delinsTGTTC	ENSP00000480165.1:n.181+190_181+194delinsTGTTC
NM_001291726.1:c.181+190_181+194delinsTGTTC	NP_001278655.1:n.181+190_181+194delinsTGTTC
NM_001291728.1:c.181+190_181+194delinsTGTTC	NP_001278657.1:n.181+190_181+194delinsTGTTC
NM_001291730.1:c.181+190_181+194delinsTGTTC	NP_001278659.1:n.181+190_181+194delinsTGTTC
NM_001291732.1:c.181+190_181+194delinsTGTTC	NP_001278661.1:n.181+190_181+194delinsTGTTC
NM_001291733.1:c.181+190_181+194delinsTGTTC	NP_001278662.1:n.181+190_181+194delinsTGTTC
NM_033419.4:c.181+190_181+194delinsTGTTC	NP_219487.3:n.181+190_181+194delinsTGTTC
XM_011525480.1:c.181+190_181+194delinsTGTTC	XP_011523782.1:n.181+190_181+194delinsTGTTC
XM_011525481.1:c.-307+190_-307+194delinsTGTTC	XP_011523783.1:n.-307+190_-307+194delinsTGTTC
XR_934601.1:n.224+190_224+194delinsTGTTC
XM_011525480.2:c.181+190_181+194delinsTGTTC	XP_011523782.1:n.181+190_181+194delinsTGTTC
XM_011525481.2:c.-307+190_-307+194delinsTGTTC	XP_011523783.1:n.-307+190_-307+194delinsTGTTC
XR_002958086.1:n.224+190_224+194delinsTGTTC
NM_033419.5:c.181+190_181+194delinsTGTTC MANE Select	NP_219487.3:n.181+190_181+194delinsTGTTC
NM_001291726.2:c.181+190_181+194delinsTGTTC	NP_001278655.1:n.181+190_181+194delinsTGTTC
NM_001291728.2:c.181+190_181+194delinsTGTTC	NP_001278657.1:n.181+190_181+194delinsTGTTC
NM_001291730.2:c.181+190_181+194delinsTGTTC	NP_001278659.1:n.181+190_181+194delinsTGTTC
NM_001291732.2:c.181+190_181+194delinsTGTTC	NP_001278661.1:n.181+190_181+194delinsTGTTC
NM_001291733.2:c.181+190_181+194delinsTGTTC	NP_001278662.1:n.181+190_181+194delinsTGTTC