Canonical Allele Identifier: CA2648253724

Gene: GBA1

Linked Data

• gnomAD v4: 1-155239890-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239893del , CM000663.2:g.155239893del	GRCh38
NC_000001.10:g.155209684del , CM000663.1:g.155209684del	GRCh37
NC_000001.9:g.153476308del	NCBI36
NG_009783.1:g.9807del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.302del MANE Select	ENSP00000357357.3:p.Gly101AlafsTer6
ENST00000327247.9:c.302del	ENSP00000314508.5:p.Gly101AlafsTer6
ENST00000368373.7:c.302del	ENSP00000357357.3:p.Gly101AlafsTer6
ENST00000427500.7:c.302del	ENSP00000402577.2:p.Gly101AlafsTer?
ENST00000428024.3:c.41del	ENSP00000397986.2:p.Gly14AlafsTer6
ENST00000467918.5:n.492del
ENST00000473570.5:n.623del
ENST00000484489.5:n.339+82del
ENST00000493842.5:n.640del
ENST00000497670.5:n.72del
NM_000157.3:c.302del	NP_000148.2:p.Gly101AlafsTer6
NM_001005741.2:c.302del	NP_001005741.1:p.Gly101AlafsTer6
NM_001005742.2:c.302del	NP_001005742.1:p.Gly101AlafsTer6
NM_001171811.1:c.41del	NP_001165282.1:p.Gly14AlafsTer6
NM_001171812.1:c.302del	NP_001165283.1:p.Gly101AlafsTer?
XM_006711270.1:c.302del	XP_006711333.1:p.Gly101AlafsTer6
XM_011509407.1:c.302del	XP_011507709.1:p.Gly101AlafsTer6
NM_000157.4:c.302del MANE Select	NP_000148.2:p.Gly101AlafsTer6
NM_001005741.3:c.302del	NP_001005741.1:p.Gly101AlafsTer6
NM_001005742.3:c.302del	NP_001005742.1:p.Gly101AlafsTer6
NM_001171811.2:c.41del	NP_001165282.1:p.Gly14AlafsTer6
NM_001171812.2:c.302del	NP_001165283.1:p.Gly101AlafsTer?