Canonical Allele Identifier: CA2648250994

Gene: GBA1

Linked Data

• gnomAD v4: 1-155236464-CAGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155236466_155236468del , CM000663.2:g.155236466_155236468del	GRCh38
NC_000001.10:g.155206257_155206259del , CM000663.1:g.155206257_155206259del	GRCh37
NC_000001.9:g.153472881_153472883del	NCBI36
NG_009783.1:g.13231_13233del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.1002_1004del MANE Select	ENSP00000357357.3:p.Leu335del
ENST00000327247.9:c.1002_1004del	ENSP00000314508.5:p.Leu335del
ENST00000368373.7:c.1002_1004del	ENSP00000357357.3:p.Leu335del
ENST00000427500.7:c.855_857del	ENSP00000402577.2:p.Leu286del
ENST00000428024.3:c.741_743del	ENSP00000397986.2:p.Leu248del
ENST00000484489.5:n.340-179_340-177del
ENST00000491081.5:n.607_609del
ENST00000497670.5:n.625_627del
NM_000157.3:c.1002_1004del	NP_000148.2:p.Leu335del
NM_001005741.2:c.1002_1004del	NP_001005741.1:p.Leu335del
NM_001005742.2:c.1002_1004del	NP_001005742.1:p.Leu335del
NM_001171811.1:c.741_743del	NP_001165282.1:p.Leu248del
NM_001171812.1:c.855_857del	NP_001165283.1:p.Leu286del
XM_006711270.1:c.1002_1004del	XP_006711333.1:p.Leu335del
XM_011509407.1:c.1002_1004del	XP_011507709.1:p.Leu335del
NM_000157.4:c.1002_1004del MANE Select	NP_000148.2:p.Leu335del
NM_001005741.3:c.1002_1004del	NP_001005741.1:p.Leu335del
NM_001005742.3:c.1002_1004del	NP_001005742.1:p.Leu335del
NM_001171811.2:c.741_743del	NP_001165282.1:p.Leu248del
NM_001171812.2:c.855_857del	NP_001165283.1:p.Leu286del