Canonical Allele Identifier: CA2604897733

Gene: GBA1

Linked Data

• gnomAD v3: 1-155239947-TGTA-T
• gnomAD v4: 1-155239947-TGTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239948_155239950del , CM000663.2:g.155239948_155239950del	GRCh38
NC_000001.10:g.155209739_155209741del , CM000663.1:g.155209739_155209741del	GRCh37
NC_000001.9:g.153476363_153476365del	NCBI36
NG_009783.1:g.9748_9750del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.243_245del MANE Select	ENSP00000357357.3:p.Ser81_Thr82delinsArg
ENST00000327247.9:c.243_245del	ENSP00000314508.5:p.Ser81_Thr82delinsArg
ENST00000368373.7:c.243_245del	ENSP00000357357.3:p.Ser81_Thr82delinsArg
ENST00000427500.7:c.243_245del	ENSP00000402577.2:p.Ser81_Thr82delinsArg
ENST00000428024.3:c.-19_-17del	ENSP00000397986.2:n.-19_-17del
ENST00000467918.5:n.433_435del
ENST00000473570.5:n.564_566del
ENST00000484489.5:n.339+23_339+25del
ENST00000493842.5:n.581_583del
ENST00000497670.5:n.13_15del
NM_000157.3:c.243_245del	NP_000148.2:p.Ser81_Thr82delinsArg
NM_001005741.2:c.243_245del	NP_001005741.1:p.Ser81_Thr82delinsArg
NM_001005742.2:c.243_245del	NP_001005742.1:p.Ser81_Thr82delinsArg
NM_001171811.1:c.-19_-17del	NP_001165282.1:n.-19_-17del
NM_001171812.1:c.243_245del	NP_001165283.1:p.Ser81_Thr82delinsArg
XM_006711270.1:c.243_245del	XP_006711333.1:p.Ser81_Thr82delinsArg
XM_011509407.1:c.243_245del	XP_011507709.1:p.Ser81_Thr82delinsArg
NM_000157.4:c.243_245del MANE Select	NP_000148.2:p.Ser81_Thr82delinsArg
NM_001005741.3:c.243_245del	NP_001005741.1:p.Ser81_Thr82delinsArg
NM_001005742.3:c.243_245del	NP_001005742.1:p.Ser81_Thr82delinsArg
NM_001171811.2:c.-19_-17del	NP_001165282.1:n.-19_-17del
NM_001171812.2:c.243_245del	NP_001165283.1:p.Ser81_Thr82delinsArg