Canonical Allele Identifier: CA2481202753

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238214_155238215delinsAT , CM000663.2:g.155238214_155238215delinsAT	GRCh38
NC_000001.10:g.155208005_155208006delinsAT , CM000663.1:g.155208005_155208006delinsAT	GRCh37
NC_000001.9:g.153474629_153474630delinsAT	NCBI36
NG_009783.1:g.11483_11484delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.680_681delinsAT MANE Select	ENSP00000357357.3:p.Asn227=
ENST00000327247.9:c.680_681delinsAT	ENSP00000314508.5:p.Asn227=
ENST00000368373.7:c.680_681delinsAT	ENSP00000357357.3:p.Asn227=
ENST00000427500.7:c.533_534delinsAT	ENSP00000402577.2:p.Asn178=
ENST00000428024.3:c.419_420delinsAT	ENSP00000397986.2:p.Asn140=
ENST00000460156.1:n.467_468delinsAT
ENST00000484489.5:n.339+1758_339+1759delinsAT
ENST00000491081.5:n.285_286delinsAT
ENST00000493842.5:n.1018_1019delinsAT
ENST00000497670.5:n.303_304delinsAT
NM_000157.3:c.680_681delinsAT	NP_000148.2:p.Asn227=
NM_001005741.2:c.680_681delinsAT	NP_001005741.1:p.Asn227=
NM_001005742.2:c.680_681delinsAT	NP_001005742.1:p.Asn227=
NM_001171811.1:c.419_420delinsAT	NP_001165282.1:p.Asn140=
NM_001171812.1:c.533_534delinsAT	NP_001165283.1:p.Asn178=
XM_006711270.1:c.680_681delinsAT	XP_006711333.1:p.Asn227=
XM_011509407.1:c.680_681delinsAT	XP_011507709.1:p.Asn227=
NM_000157.4:c.680_681delinsAT MANE Select	NP_000148.2:p.Asn227=
NM_001005741.3:c.680_681delinsAT	NP_001005741.1:p.Asn227=
NM_001005742.3:c.680_681delinsAT	NP_001005742.1:p.Asn227=
NM_001171811.2:c.419_420delinsAT	NP_001165282.1:p.Asn140=
NM_001171812.2:c.533_534delinsAT	NP_001165283.1:p.Asn178=