Canonical Allele Identifier: CA2259203923
Gene: PGAP3 HGNC NCBI

Linked Data

dbSNP Id: rs2057310145

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39671884_39671886del , CM000679.2:g.39671884_39671886del GRCh38
NC_000017.10:g.37828137_37828139del , CM000679.1:g.37828137_37828139del GRCh37
NC_000017.9:g.35081663_35081665del NCBI36
NG_034125.1:g.21186_21188del
NG_042278.1:g.8904_8906del

Transcript Alleles

HGVS Amino-acid Change
ENST00000300658.9:c.*918_*920del MANE Select ENSP00000300658.4:n.*918_*920del
ENST00000300658.8:c.*918_*920del ENSP00000300658.4:n.*918_*920del
ENST00000309862.10:n.2266_2268del
ENST00000378011.8:c.*918_*920del ENSP00000367250.4:n.*918_*920del
ENST00000579146.5:c.*967_*969del ENSP00000463234.1:n.*967_*969del
ENST00000614824.4:c.*918_*920del ENSP00000480165.1:n.*918_*920del
ENST00000619169.4:c.*84_*86del ENSP00000478028.1:n.*84_*86del
NM_001291726.1:c.*918_*920del NP_001278655.1:n.*918_*920del
NM_001291728.1:c.*918_*920del NP_001278657.1:n.*918_*920del
NM_001291730.1:c.*918_*920del NP_001278659.1:n.*918_*920del
NM_001291732.1:c.*918_*920del NP_001278661.1:n.*918_*920del
NM_001291733.1:c.*967_*969del NP_001278662.1:n.*967_*969del
NM_033419.4:c.*918_*920del NP_219487.3:n.*918_*920del
XM_011525480.2:c.*950_*952del XP_011523782.1:n.*950_*952del
XM_011525481.2:c.*918_*920del XP_011523783.1:n.*918_*920del
XR_002958086.1:n.2408_2410del
NM_033419.5:c.*918_*920del MANE Select NP_219487.3:n.*918_*920del
NM_001291726.2:c.*918_*920del NP_001278655.1:n.*918_*920del
NM_001291728.2:c.*918_*920del NP_001278657.1:n.*918_*920del
NM_001291730.2:c.*918_*920del NP_001278659.1:n.*918_*920del
NM_001291732.2:c.*918_*920del NP_001278661.1:n.*918_*920del
NM_001291733.2:c.*967_*969del NP_001278662.1:n.*967_*969del