Canonical Allele Identifier: CA2648253490

Gene: GBA1

Linked Data

• gnomAD v4: 1-155239802-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239805del , CM000663.2:g.155239805del	GRCh38
NC_000001.10:g.155209596del , CM000663.1:g.155209596del	GRCh37
NC_000001.9:g.153476220del	NCBI36
NG_009783.1:g.9895del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.308-41del MANE Select	ENSP00000357357.3:n.308-41del
ENST00000327247.9:c.308-41del	ENSP00000314508.5:n.308-41del
ENST00000368373.7:c.308-41del	ENSP00000357357.3:n.308-41del
ENST00000427500.7:c.307+83del	ENSP00000402577.2:n.307+83del
ENST00000428024.3:c.47-41del	ENSP00000397986.2:n.47-41del
ENST00000467918.5:n.498-41del
ENST00000473570.5:n.629-41del
ENST00000484489.5:n.339+170del
ENST00000493842.5:n.646-41del
ENST00000497670.5:n.77+83del
NM_000157.3:c.308-41del	NP_000148.2:n.308-41del
NM_001005741.2:c.308-41del	NP_001005741.1:n.308-41del
NM_001005742.2:c.308-41del	NP_001005742.1:n.308-41del
NM_001171811.1:c.47-41del	NP_001165282.1:n.47-41del
NM_001171812.1:c.307+83del	NP_001165283.1:n.307+83del
XM_006711270.1:c.308-41del	XP_006711333.1:n.308-41del
XM_011509407.1:c.308-41del	XP_011507709.1:n.308-41del
NM_000157.4:c.308-41del MANE Select	NP_000148.2:n.308-41del
NM_001005741.3:c.308-41del	NP_001005741.1:n.308-41del
NM_001005742.3:c.308-41del	NP_001005742.1:n.308-41del
NM_001171811.2:c.47-41del	NP_001165282.1:n.47-41del
NM_001171812.2:c.307+83del	NP_001165283.1:n.307+83del