Canonical Allele Identifier: CA2259203974

Gene: PGAP3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39672019_39672022delinsCCGA , CM000679.2:g.39672019_39672022delinsCCGA	GRCh38
NC_000017.10:g.37828272_37828275delinsCCGA , CM000679.1:g.37828272_37828275delinsCCGA	GRCh37
NC_000017.9:g.35081798_35081801delinsCCGA	NCBI36
NG_034125.1:g.21049_21052delinsTCGG
NG_042278.1:g.9039_9042delinsCCGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300658.9:c.*781_*784delinsTCGG MANE Select	ENSP00000300658.4:n.*781_*784delinsTCGG
ENST00000300658.8:c.*781_*784delinsTCGG	ENSP00000300658.4:n.*781_*784delinsTCGG
ENST00000309862.10:n.2129_2132delinsTCGG
ENST00000378011.8:c.*781_*784delinsTCGG	ENSP00000367250.4:n.*781_*784delinsTCGG
ENST00000579146.5:c.*830_*833delinsTCGG	ENSP00000463234.1:n.*830_*833delinsTCGG
ENST00000614824.4:c.*781_*784delinsTCGG	ENSP00000480165.1:n.*781_*784delinsTCGG
ENST00000619169.4:c.670_673delinsTCGG	ENSP00000478028.1:p.Ser224=
NM_001291726.1:c.*781_*784delinsTCGG	NP_001278655.1:n.*781_*784delinsTCGG
NM_001291728.1:c.*781_*784delinsTCGG	NP_001278657.1:n.*781_*784delinsTCGG
NM_001291730.1:c.*781_*784delinsTCGG	NP_001278659.1:n.*781_*784delinsTCGG
NM_001291732.1:c.*781_*784delinsTCGG	NP_001278661.1:n.*781_*784delinsTCGG
NM_001291733.1:c.*830_*833delinsTCGG	NP_001278662.1:n.*830_*833delinsTCGG
NM_033419.4:c.*781_*784delinsTCGG	NP_219487.3:n.*781_*784delinsTCGG
XM_011525480.2:c.*813_*816delinsTCGG	XP_011523782.1:n.*813_*816delinsTCGG
XM_011525481.2:c.*781_*784delinsTCGG	XP_011523783.1:n.*781_*784delinsTCGG
XR_002958086.1:n.2271_2274delinsTCGG
NM_033419.5:c.*781_*784delinsTCGG MANE Select	NP_219487.3:n.*781_*784delinsTCGG
NM_001291726.2:c.*781_*784delinsTCGG	NP_001278655.1:n.*781_*784delinsTCGG
NM_001291728.2:c.*781_*784delinsTCGG	NP_001278657.1:n.*781_*784delinsTCGG
NM_001291730.2:c.*781_*784delinsTCGG	NP_001278659.1:n.*781_*784delinsTCGG
NM_001291732.2:c.*781_*784delinsTCGG	NP_001278661.1:n.*781_*784delinsTCGG
NM_001291733.2:c.*830_*833delinsTCGG	NP_001278662.1:n.*830_*833delinsTCGG