Canonical Allele Identifier: CA2573914545

Gene: GBA1

Linked Data

• ClinVar Variation Id: 2582864
• ClinVar RCV Id: RCV003334107

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155235262_155235264del , CM000663.2:g.155235262_155235264del	GRCh38
NC_000001.10:g.155205053_155205055del , CM000663.1:g.155205053_155205055del	GRCh37
NC_000001.9:g.153471677_153471679del	NCBI36
NG_009783.1:g.14438_14440del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.1440_1442del MANE Select	ENSP00000357357.3:p.Lys480del
ENST00000327247.9:c.1440_1442del	ENSP00000314508.5:p.Lys480del
ENST00000368373.7:c.1440_1442del	ENSP00000357357.3:p.Lys480del
ENST00000427500.7:c.1293_1295del	ENSP00000402577.2:p.Lys431del
ENST00000428024.3:c.1179_1181del	ENSP00000397986.2:p.Lys393del
ENST00000464536.1:n.190+386_190+388del
ENST00000478472.1:n.800_802del
ENST00000484489.5:n.599_601del
NM_000157.3:c.1440_1442del	NP_000148.2:p.Lys480del
NM_001005741.2:c.1440_1442del	NP_001005741.1:p.Lys480del
NM_001005742.2:c.1440_1442del	NP_001005742.1:p.Lys480del
NM_001171811.1:c.1179_1181del	NP_001165282.1:p.Lys393del
NM_001171812.1:c.1293_1295del	NP_001165283.1:p.Lys431del
XM_006711270.1:c.1440_1442del	XP_006711333.1:p.Lys480del
XM_011509407.1:c.1440_1442del	XP_011507709.1:p.Lys480del
NM_000157.4:c.1440_1442del MANE Select	NP_000148.2:p.Lys480del
NM_001005741.3:c.1440_1442del	NP_001005741.1:p.Lys480del
NM_001005742.3:c.1440_1442del	NP_001005742.1:p.Lys480del
NM_001171811.2:c.1179_1181del	NP_001165282.1:p.Lys393del
NM_001171812.2:c.1293_1295del	NP_001165283.1:p.Lys431del