Canonical Allele Identifier: CA341583
Gene: GBA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155240651_155240652insC , CM000663.2:g.155240651_155240652insC GRCh38
NC_000001.10:g.155210442_155210443insC , CM000663.1:g.155210442_155210443insC GRCh37
NC_000001.9:g.153477066_153477067insC NCBI36
NG_009783.1:g.9046_9047insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000368373.8:c.93_94insG MANE Select ENSP00000357357.3:p.Gln32AlafsTer15
ENST00000327247.9:c.93_94insG ENSP00000314508.5:p.Gln32AlafsTer15
ENST00000368373.7:c.93_94insG ENSP00000357357.3:p.Gln32AlafsTer15
ENST00000427500.7:c.93_94insG ENSP00000402577.2:p.Gln32AlafsTer15
ENST00000428024.3:c.-146-575_-146-574insG ENSP00000397986.2:n.-146-575_-146-574insG
ENST00000467918.5:n.398_399insG
ENST00000470104.1:n.224_225insG
ENST00000473570.5:n.414_415insG
ENST00000484489.5:n.212_213insG
ENST00000493842.5:n.431_432insG
NM_000157.3:c.93_94insG NP_000148.2:p.Gln32AlafsTer15
NM_001005741.2:c.93_94insG NP_001005741.1:p.Gln32AlafsTer15
NM_001005742.2:c.93_94insG NP_001005742.1:p.Gln32AlafsTer15
NM_001171811.1:c.-146-575_-146-574insG NP_001165282.1:n.-146-575_-146-574insG
NM_001171812.1:c.93_94insG NP_001165283.1:p.Gln32AlafsTer15
XM_006711270.1:c.93_94insG XP_006711333.1:p.Gln32AlafsTer15
XM_011509407.1:c.93_94insG XP_011507709.1:p.Gln32AlafsTer15
NM_000157.4:c.93_94insG MANE Select NP_000148.2:p.Gln32AlafsTer15
NM_001005741.3:c.93_94insG NP_001005741.1:p.Gln32AlafsTer15
NM_001005742.3:c.93_94insG NP_001005742.1:p.Gln32AlafsTer15
NM_001171811.2:c.-146-575_-146-574insG NP_001165282.1:n.-146-575_-146-574insG
NM_001171812.2:c.93_94insG NP_001165283.1:p.Gln32AlafsTer15
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