Canonical Allele Identifier: CA2637631071

Gene: PGAP3

Linked Data

• gnomAD v4: 17-39671998-CTTTGAAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39671999_39672005del , CM000679.2:g.39671999_39672005del	GRCh38
NC_000017.10:g.37828252_37828258del , CM000679.1:g.37828252_37828258del	GRCh37
NC_000017.9:g.35081778_35081784del	NCBI36
NG_034125.1:g.21066_21072del
NG_042278.1:g.9019_9025del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300658.9:c.*798_*804del MANE Select	ENSP00000300658.4:n.*798_*804del
ENST00000300658.8:c.*798_*804del	ENSP00000300658.4:n.*798_*804del
ENST00000309862.10:n.2146_2152del
ENST00000378011.8:c.*798_*804del	ENSP00000367250.4:n.*798_*804del
ENST00000579146.5:c.*847_*853del	ENSP00000463234.1:n.*847_*853del
ENST00000614824.4:c.*798_*804del	ENSP00000480165.1:n.*798_*804del
ENST00000619169.4:c.687_693del	ENSP00000478028.1:p.Phe230CysfsTer13
NM_001291726.1:c.*798_*804del	NP_001278655.1:n.*798_*804del
NM_001291728.1:c.*798_*804del	NP_001278657.1:n.*798_*804del
NM_001291730.1:c.*798_*804del	NP_001278659.1:n.*798_*804del
NM_001291732.1:c.*798_*804del	NP_001278661.1:n.*798_*804del
NM_001291733.1:c.*847_*853del	NP_001278662.1:n.*847_*853del
NM_033419.4:c.*798_*804del	NP_219487.3:n.*798_*804del
XM_011525480.2:c.*830_*836del	XP_011523782.1:n.*830_*836del
XM_011525481.2:c.*798_*804del	XP_011523783.1:n.*798_*804del
XR_002958086.1:n.2288_2294del
NM_033419.5:c.*798_*804del MANE Select	NP_219487.3:n.*798_*804del
NM_001291726.2:c.*798_*804del	NP_001278655.1:n.*798_*804del
NM_001291728.2:c.*798_*804del	NP_001278657.1:n.*798_*804del
NM_001291730.2:c.*798_*804del	NP_001278659.1:n.*798_*804del
NM_001291732.2:c.*798_*804del	NP_001278661.1:n.*798_*804del
NM_001291733.2:c.*847_*853del	NP_001278662.1:n.*847_*853del