Canonical Allele Identifier: CA2481201484

Gene: GBA1

Linked Data

• dbSNP Id: rs1671672813
• gnomAD v4: 1-155235237-AGTGCCACTGCGTCCAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155235240_155235255del , CM000663.2:g.155235240_155235255del	GRCh38
NC_000001.10:g.155205031_155205046del , CM000663.1:g.155205031_155205046del	GRCh37
NC_000001.9:g.153471655_153471670del	NCBI36
NG_009783.1:g.14445_14460del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.1447_1462del MANE Select	ENSP00000357357.3:p.Leu483Ter
ENST00000327247.9:c.1447_1462del	ENSP00000314508.5:p.Leu483Ter
ENST00000368373.7:c.1447_1462del	ENSP00000357357.3:p.Leu483Ter
ENST00000427500.7:c.1300_1315del	ENSP00000402577.2:p.Leu434Ter
ENST00000428024.3:c.1186_1201del	ENSP00000397986.2:p.Leu396Ter
ENST00000464536.1:n.190+393_190+408del
ENST00000478472.1:n.807_822del
ENST00000484489.5:n.606_621del
NM_000157.3:c.1447_1462del	NP_000148.2:p.Leu483Ter
NM_001005741.2:c.1447_1462del	NP_001005741.1:p.Leu483Ter
NM_001005742.2:c.1447_1462del	NP_001005742.1:p.Leu483Ter
NM_001171811.1:c.1186_1201del	NP_001165282.1:p.Leu396Ter
NM_001171812.1:c.1300_1315del	NP_001165283.1:p.Leu434Ter
XM_006711270.1:c.1447_1462del	XP_006711333.1:p.Leu483Ter
XM_011509407.1:c.1447_1462del	XP_011507709.1:p.Leu483Ter
NM_000157.4:c.1447_1462del MANE Select	NP_000148.2:p.Leu483Ter
NM_001005741.3:c.1447_1462del	NP_001005741.1:p.Leu483Ter
NM_001005742.3:c.1447_1462del	NP_001005742.1:p.Leu483Ter
NM_001171811.2:c.1186_1201del	NP_001165282.1:p.Leu396Ter
NM_001171812.2:c.1300_1315del	NP_001165283.1:p.Leu434Ter