Canonical Allele Identifier: CA2573916842

Gene: GBA1

Linked Data

• gnomAD v4: 1-155239935-TCGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239937_155239939del , CM000663.2:g.155239937_155239939del	GRCh38
NC_000001.10:g.155209728_155209730del , CM000663.1:g.155209728_155209730del	GRCh37
NC_000001.9:g.153476352_153476354del	NCBI36
NG_009783.1:g.9760_9762del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.255_257del MANE Select	ENSP00000357357.3:p.Arg86del
ENST00000327247.9:c.255_257del	ENSP00000314508.5:p.Arg86del
ENST00000368373.7:c.255_257del	ENSP00000357357.3:p.Arg86del
ENST00000427500.7:c.255_257del	ENSP00000402577.2:p.Arg86del
ENST00000428024.3:c.-7_-5del	ENSP00000397986.2:n.-7_-5del
ENST00000467918.5:n.445_447del
ENST00000473570.5:n.576_578del
ENST00000484489.5:n.339+35_339+37del
ENST00000493842.5:n.593_595del
ENST00000497670.5:n.25_27del
NM_000157.3:c.255_257del	NP_000148.2:p.Arg86del
NM_001005741.2:c.255_257del	NP_001005741.1:p.Arg86del
NM_001005742.2:c.255_257del	NP_001005742.1:p.Arg86del
NM_001171811.1:c.-7_-5del	NP_001165282.1:n.-7_-5del
NM_001171812.1:c.255_257del	NP_001165283.1:p.Arg86del
XM_006711270.1:c.255_257del	XP_006711333.1:p.Arg86del
XM_011509407.1:c.255_257del	XP_011507709.1:p.Arg86del
NM_000157.4:c.255_257del MANE Select	NP_000148.2:p.Arg86del
NM_001005741.3:c.255_257del	NP_001005741.1:p.Arg86del
NM_001005742.3:c.255_257del	NP_001005742.1:p.Arg86del
NM_001171811.2:c.-7_-5del	NP_001165282.1:n.-7_-5del
NM_001171812.2:c.255_257del	NP_001165283.1:p.Arg86del