Canonical Allele Identifier: CA2637631962

Gene: PGAP3

Linked Data

• gnomAD v4: 17-39687806-CGGGGCTTACCGTGGGGGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39687817_39687834del , CM000679.2:g.39687817_39687834del	GRCh38
NC_000017.10:g.37844070_37844087del , CM000679.1:g.37844070_37844087del	GRCh37
NC_000017.9:g.35097596_35097613del	NCBI36
NG_007503.1:g.4678_4695del , LRG_724:g.4678_4695del
NG_034125.1:g.5247_5264del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300658.9:c.181+10_181+27del
ENST00000300658.8:c.181+10_181+27del
ENST00000309862.10:n.224+10_224+27del
ENST00000378011.8:c.181+10_181+27del
ENST00000429199.6:c.181+10_181+27del
ENST00000579146.5:c.181+10_181+27del
ENST00000582276.1:n.216+10_216+27del
ENST00000584620.5:c.168+10_168+27del
ENST00000584856.1:c.-35-1805_-35-1788del	ENSP00000463785.1:n.-35-1805_-35-1788del
ENST00000614824.4:c.181+10_181+27del
NM_001291726.1:c.181+10_181+27del
NM_001291728.1:c.181+10_181+27del
NM_001291730.1:c.181+10_181+27del
NM_001291732.1:c.181+10_181+27del
NM_001291733.1:c.181+10_181+27del
NM_033419.4:c.181+10_181+27del
XM_011525480.1:c.181+10_181+27del
XM_011525481.1:c.-307+10_-307+27del
XR_934601.1:n.224+10_224+27del
XM_011525480.2:c.181+10_181+27del
XM_011525481.2:c.-307+10_-307+27del
XR_002958086.1:n.224+10_224+27del
NM_033419.5:c.181+10_181+27del
NM_001291726.2:c.181+10_181+27del
NM_001291728.2:c.181+10_181+27del
NM_001291730.2:c.181+10_181+27del
NM_001291732.2:c.181+10_181+27del
NM_001291733.2:c.181+10_181+27del