Canonical Allele Identifier: CA2604897734

Gene: GBA1

Linked Data

• gnomAD v3: 1-155239951-C-CCCCACT
• gnomAD v4: 1-155239951-C-CCCCACT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239951_155239952insCCCACT , CM000663.2:g.155239951_155239952insCCCACT	GRCh38
NC_000001.10:g.155209742_155209743insCCCACT , CM000663.1:g.155209742_155209743insCCCACT	GRCh37
NC_000001.9:g.153476366_153476367insCCCACT	NCBI36
NG_009783.1:g.9746_9747insAGTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.241_242insAGTGGG MANE Select	ENSP00000357357.3:p.Ser81delinsLysTrpGly
ENST00000327247.9:c.241_242insAGTGGG	ENSP00000314508.5:p.Ser81delinsLysTrpGly
ENST00000368373.7:c.241_242insAGTGGG	ENSP00000357357.3:p.Ser81delinsLysTrpGly
ENST00000427500.7:c.241_242insAGTGGG	ENSP00000402577.2:p.Ser81delinsLysTrpGly
ENST00000428024.3:c.-21_-20insAGTGGG	ENSP00000397986.2:n.-21_-20insAGTGGG
ENST00000467918.5:n.431_432insAGTGGG
ENST00000473570.5:n.562_563insAGTGGG
ENST00000484489.5:n.339+21_339+22insAGTGGG
ENST00000493842.5:n.579_580insAGTGGG
ENST00000497670.5:n.11_12insAGTGGG
NM_000157.3:c.241_242insAGTGGG	NP_000148.2:p.Ser81delinsLysTrpGly
NM_001005741.2:c.241_242insAGTGGG	NP_001005741.1:p.Ser81delinsLysTrpGly
NM_001005742.2:c.241_242insAGTGGG	NP_001005742.1:p.Ser81delinsLysTrpGly
NM_001171811.1:c.-21_-20insAGTGGG	NP_001165282.1:n.-21_-20insAGTGGG
NM_001171812.1:c.241_242insAGTGGG	NP_001165283.1:p.Ser81delinsLysTrpGly
XM_006711270.1:c.241_242insAGTGGG	XP_006711333.1:p.Ser81delinsLysTrpGly
XM_011509407.1:c.241_242insAGTGGG	XP_011507709.1:p.Ser81delinsLysTrpGly
NM_000157.4:c.241_242insAGTGGG MANE Select	NP_000148.2:p.Ser81delinsLysTrpGly
NM_001005741.3:c.241_242insAGTGGG	NP_001005741.1:p.Ser81delinsLysTrpGly
NM_001005742.3:c.241_242insAGTGGG	NP_001005742.1:p.Ser81delinsLysTrpGly
NM_001171811.2:c.-21_-20insAGTGGG	NP_001165282.1:n.-21_-20insAGTGGG
NM_001171812.2:c.241_242insAGTGGG	NP_001165283.1:p.Ser81delinsLysTrpGly