Canonical Allele Identifier: CA983621723

Gene: PGAP3

Linked Data

• dbSNP Id: rs2057575315
• gnomAD v3: 17-39687640-GAACA-G
• gnomAD v4: 17-39687640-GAACA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39687643_39687646del , CM000679.2:g.39687643_39687646del	GRCh38
NC_000017.10:g.37843896_37843899del , CM000679.1:g.37843896_37843899del	GRCh37
NC_000017.9:g.35097422_35097425del	NCBI36
NG_007503.1:g.4504_4507del , LRG_724:g.4504_4507del
NG_034125.1:g.5427_5430del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300658.9:c.181+190_181+193del MANE Select	ENSP00000300658.4:n.181+190_181+193del
ENST00000300658.8:c.181+190_181+193del	ENSP00000300658.4:n.181+190_181+193del
ENST00000309862.10:n.224+190_224+193del
ENST00000378011.8:c.181+190_181+193del	ENSP00000367250.4:n.181+190_181+193del
ENST00000429199.6:c.181+190_181+193del	ENSP00000415765.2:n.181+190_181+193del
ENST00000579146.5:c.181+190_181+193del	ENSP00000463234.1:n.181+190_181+193del
ENST00000582276.1:n.216+190_216+193del
ENST00000584620.5:c.168+190_168+193del
ENST00000584856.1:c.-35-1625_-35-1622del	ENSP00000463785.1:n.-35-1625_-35-1622del
ENST00000614824.4:c.181+190_181+193del	ENSP00000480165.1:n.181+190_181+193del
NM_001291726.1:c.181+190_181+193del	NP_001278655.1:n.181+190_181+193del
NM_001291728.1:c.181+190_181+193del	NP_001278657.1:n.181+190_181+193del
NM_001291730.1:c.181+190_181+193del	NP_001278659.1:n.181+190_181+193del
NM_001291732.1:c.181+190_181+193del	NP_001278661.1:n.181+190_181+193del
NM_001291733.1:c.181+190_181+193del	NP_001278662.1:n.181+190_181+193del
NM_033419.4:c.181+190_181+193del	NP_219487.3:n.181+190_181+193del
XM_011525480.1:c.181+190_181+193del	XP_011523782.1:n.181+190_181+193del
XM_011525481.1:c.-307+190_-307+193del	XP_011523783.1:n.-307+190_-307+193del
XR_934601.1:n.224+190_224+193del
XM_011525480.2:c.181+190_181+193del	XP_011523782.1:n.181+190_181+193del
XM_011525481.2:c.-307+190_-307+193del	XP_011523783.1:n.-307+190_-307+193del
XR_002958086.1:n.224+190_224+193del
NM_033419.5:c.181+190_181+193del MANE Select	NP_219487.3:n.181+190_181+193del
NM_001291726.2:c.181+190_181+193del	NP_001278655.1:n.181+190_181+193del
NM_001291728.2:c.181+190_181+193del	NP_001278657.1:n.181+190_181+193del
NM_001291730.2:c.181+190_181+193del	NP_001278659.1:n.181+190_181+193del
NM_001291732.2:c.181+190_181+193del	NP_001278661.1:n.181+190_181+193del
NM_001291733.2:c.181+190_181+193del	NP_001278662.1:n.181+190_181+193del