Canonical Allele Identifier: CA1007985429

Gene: GBA1

Linked Data

• gnomAD v3: 1-155239550-T-TAAAA
• gnomAD v4: 1-155239550-T-TAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239554_155239557dup , CM000663.2:g.155239554_155239557dup	GRCh38
NC_000001.10:g.155209345_155209348dup , CM000663.1:g.155209345_155209348dup	GRCh37
NC_000001.9:g.153475969_153475972dup	NCBI36
NG_009783.1:g.10144_10147dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.454+62_454+65dup MANE Select	ENSP00000357357.3:n.454+62_454+65dup
ENST00000327247.9:c.454+62_454+65dup	ENSP00000314508.5:n.454+62_454+65dup
ENST00000368373.7:c.454+62_454+65dup	ENSP00000357357.3:n.454+62_454+65dup
ENST00000427500.7:c.307+332_307+335dup	ENSP00000402577.2:n.307+332_307+335dup
ENST00000428024.3:c.193+62_193+65dup	ENSP00000397986.2:n.193+62_193+65dup
ENST00000473570.5:n.775+62_775+65dup
ENST00000484489.5:n.339+419_339+422dup
ENST00000493842.5:n.792+62_792+65dup
ENST00000497670.5:n.77+332_77+335dup
NM_000157.3:c.454+62_454+65dup	NP_000148.2:n.454+62_454+65dup
NM_001005741.2:c.454+62_454+65dup	NP_001005741.1:n.454+62_454+65dup
NM_001005742.2:c.454+62_454+65dup	NP_001005742.1:n.454+62_454+65dup
NM_001171811.1:c.193+62_193+65dup	NP_001165282.1:n.193+62_193+65dup
NM_001171812.1:c.307+332_307+335dup	NP_001165283.1:n.307+332_307+335dup
XM_006711270.1:c.454+62_454+65dup	XP_006711333.1:n.454+62_454+65dup
XM_011509407.1:c.454+62_454+65dup	XP_011507709.1:n.454+62_454+65dup
NM_000157.4:c.454+62_454+65dup MANE Select	NP_000148.2:n.454+62_454+65dup
NM_001005741.3:c.454+62_454+65dup	NP_001005741.1:n.454+62_454+65dup
NM_001005742.3:c.454+62_454+65dup	NP_001005742.1:n.454+62_454+65dup
NM_001171811.2:c.193+62_193+65dup	NP_001165282.1:n.193+62_193+65dup
NM_001171812.2:c.307+332_307+335dup	NP_001165283.1:n.307+332_307+335dup