Canonical Allele Identifier: CA2648253253

Gene: GBA1

Linked Data

• gnomAD v4: 1-155239550-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239557del , CM000663.2:g.155239557del	GRCh38
NC_000001.10:g.155209348del , CM000663.1:g.155209348del	GRCh37
NC_000001.9:g.153475972del	NCBI36
NG_009783.1:g.10147del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.454+65del MANE Select	ENSP00000357357.3:n.454+65del
ENST00000327247.9:c.454+65del	ENSP00000314508.5:n.454+65del
ENST00000368373.7:c.454+65del	ENSP00000357357.3:n.454+65del
ENST00000427500.7:c.307+335del	ENSP00000402577.2:n.307+335del
ENST00000428024.3:c.193+65del	ENSP00000397986.2:n.193+65del
ENST00000473570.5:n.775+65del
ENST00000484489.5:n.339+422del
ENST00000493842.5:n.792+65del
ENST00000497670.5:n.77+335del
NM_000157.3:c.454+65del	NP_000148.2:n.454+65del
NM_001005741.2:c.454+65del	NP_001005741.1:n.454+65del
NM_001005742.2:c.454+65del	NP_001005742.1:n.454+65del
NM_001171811.1:c.193+65del	NP_001165282.1:n.193+65del
NM_001171812.1:c.307+335del	NP_001165283.1:n.307+335del
XM_006711270.1:c.454+65del	XP_006711333.1:n.454+65del
XM_011509407.1:c.454+65del	XP_011507709.1:n.454+65del
NM_000157.4:c.454+65del MANE Select	NP_000148.2:n.454+65del
NM_001005741.3:c.454+65del	NP_001005741.1:n.454+65del
NM_001005742.3:c.454+65del	NP_001005742.1:n.454+65del
NM_001171811.2:c.193+65del	NP_001165282.1:n.193+65del
NM_001171812.2:c.307+335del	NP_001165283.1:n.307+335del