Canonical Allele Identifier: CA2580061121

Gene: GBA1

Linked Data

• ClinVar Variation Id: 1799756
• ClinVar RCV Id: RCV004066512

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239957_155239958del , CM000663.2:g.155239957_155239958del	GRCh38
NC_000001.10:g.155209748_155209749del , CM000663.1:g.155209748_155209749del	GRCh37
NC_000001.9:g.153476372_153476373del	NCBI36
NG_009783.1:g.9741_9742del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.236_237del MANE Select	ENSP00000357357.3:p.Tyr79Ter
ENST00000327247.9:c.236_237del	ENSP00000314508.5:p.Tyr79Ter
ENST00000368373.7:c.236_237del	ENSP00000357357.3:p.Tyr79Ter
ENST00000427500.7:c.236_237del	ENSP00000402577.2:p.Tyr79Ter
ENST00000428024.3:c.-26_-25del	ENSP00000397986.2:n.-26_-25del
ENST00000467918.5:n.426_427del
ENST00000473570.5:n.557_558del
ENST00000484489.5:n.339+16_339+17del
ENST00000493842.5:n.574_575del
ENST00000497670.5:n.6_7del
NM_000157.3:c.236_237del	NP_000148.2:p.Tyr79Ter
NM_001005741.2:c.236_237del	NP_001005741.1:p.Tyr79Ter
NM_001005742.2:c.236_237del	NP_001005742.1:p.Tyr79Ter
NM_001171811.1:c.-26_-25del	NP_001165282.1:n.-26_-25del
NM_001171812.1:c.236_237del	NP_001165283.1:p.Tyr79Ter
XM_006711270.1:c.236_237del	XP_006711333.1:p.Tyr79Ter
XM_011509407.1:c.236_237del	XP_011507709.1:p.Tyr79Ter
NM_000157.4:c.236_237del MANE Select	NP_000148.2:p.Tyr79Ter
NM_001005741.3:c.236_237del	NP_001005741.1:p.Tyr79Ter
NM_001005742.3:c.236_237del	NP_001005742.1:p.Tyr79Ter
NM_001171811.2:c.-26_-25del	NP_001165282.1:n.-26_-25del
NM_001171812.2:c.236_237del	NP_001165283.1:p.Tyr79Ter