Canonical Allele Identifier: CA2648253725
Gene: GBA1 HGNC NCBI

Linked Data

gnomAD v4: 1-155239934-G-GAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155239934_155239935insAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCT , CM000663.2:g.155239934_155239935insAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCT GRCh38
NC_000001.10:g.155209725_155209726insAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCT , CM000663.1:g.155209725_155209726insAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCT GRCh37
NC_000001.9:g.153476349_153476350insAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCT NCBI36
NG_009783.1:g.9763_9764insAGGGATTTGGAGGGGCCATGACAGATGCTGCTGCTCTCAACATCCTTGCCCTGTCACCCCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000368373.8:c.258_259insAGGGATTTGGAGGGGCCATGACAGATGCTGCTGCTCTCAACATCCTTGCCCTGTCACCCCCT MANE Select ENSP00000357357.3:p.Met88AspfsTer6
ENST00000327247.9:c.258_259insAGGGATTTGGAGGGGCCATGACAGATGCTGCTGCTCTCAACATCCTTGCCCTGTCACCCCCT ENSP00000314508.5:p.Met88AspfsTer6
ENST00000368373.7:c.258_259insAGGGATTTGGAGGGGCCATGACAGATGCTGCTGCTCTCAACATCCTTGCCCTGTCACCCCCT ENSP00000357357.3:p.Met88AspfsTer6
ENST00000427500.7:c.258_259insAGGGATTTGGAGGGGCCATGACAGATGCTGCTGCTCTCAACATCCTTGCCCTGTCACCCCCT ENSP00000402577.2:p.Met88AspfsTer6
ENST00000428024.3:c.-4_-3insAGGGATTTGGAGGGGCCATGACAGATGCTGCTGCTCTCAACATCCTTGCCCTGTCACCCCCT ENSP00000397986.2:n.-4_-3insAGGGATTTGGAGGGGCCATGACAGATGCTGCTG...
ENST00000467918.5:n.448_449insAGGGATTTGGAGGGGCCATGACAGATGCTGCTGCTCTCAACATCCTTGCCCTGTCACCCCCT
ENST00000473570.5:n.579_580insAGGGATTTGGAGGGGCCATGACAGATGCTGCTGCTCTCAACATCCTTGCCCTGTCACCCCCT
ENST00000484489.5:n.339+38_339+39insAGGGATTTGGAGGGGCCATGACAGATGCTGCTGCTCTCAACATCCTTGCCCTGTCACCCCCT
ENST00000493842.5:n.596_597insAGGGATTTGGAGGGGCCATGACAGATGCTGCTGCTCTCAACATCCTTGCCCTGTCACCCCCT
ENST00000497670.5:n.28_29insAGGGATTTGGAGGGGCCATGACAGATGCTGCTGCTCTCAACATCCTTGCCCTGTCACCCCCT
NM_000157.3:c.258_259insAGGGATTTGGAGGGGCCATGACAGATGCTGCTGCTCTCAACATCCTTGCCCTGTCACCCCCT NP_000148.2:p.Met88AspfsTer6
NM_001005741.2:c.258_259insAGGGATTTGGAGGGGCCATGACAGATGCTGCTGCTCTCAACATCCTTGCCCTGTCACCCCCT NP_001005741.1:p.Met88AspfsTer6
NM_001005742.2:c.258_259insAGGGATTTGGAGGGGCCATGACAGATGCTGCTGCTCTCAACATCCTTGCCCTGTCACCCCCT NP_001005742.1:p.Met88AspfsTer6
NM_001171811.1:c.-4_-3insAGGGATTTGGAGGGGCCATGACAGATGCTGCTGCTCTCAACATCCTTGCCCTGTCACCCCCT NP_001165282.1:n.-4_-3insAGGGATTTGGAGGGGCCATGACAGATGCTGCTGCTC...
NM_001171812.1:c.258_259insAGGGATTTGGAGGGGCCATGACAGATGCTGCTGCTCTCAACATCCTTGCCCTGTCACCCCCT NP_001165283.1:p.Met88AspfsTer6
XM_006711270.1:c.258_259insAGGGATTTGGAGGGGCCATGACAGATGCTGCTGCTCTCAACATCCTTGCCCTGTCACCCCCT XP_006711333.1:p.Met88AspfsTer6
XM_011509407.1:c.258_259insAGGGATTTGGAGGGGCCATGACAGATGCTGCTGCTCTCAACATCCTTGCCCTGTCACCCCCT XP_011507709.1:p.Met88AspfsTer6
NM_000157.4:c.258_259insAGGGATTTGGAGGGGCCATGACAGATGCTGCTGCTCTCAACATCCTTGCCCTGTCACCCCCT MANE Select NP_000148.2:p.Met88AspfsTer6
NM_001005741.3:c.258_259insAGGGATTTGGAGGGGCCATGACAGATGCTGCTGCTCTCAACATCCTTGCCCTGTCACCCCCT NP_001005741.1:p.Met88AspfsTer6
NM_001005742.3:c.258_259insAGGGATTTGGAGGGGCCATGACAGATGCTGCTGCTCTCAACATCCTTGCCCTGTCACCCCCT NP_001005742.1:p.Met88AspfsTer6
NM_001171811.2:c.-4_-3insAGGGATTTGGAGGGGCCATGACAGATGCTGCTGCTCTCAACATCCTTGCCCTGTCACCCCCT NP_001165282.1:n.-4_-3insAGGGATTTGGAGGGGCCATGACAGATGCTGCTGCTC...
NM_001171812.2:c.258_259insAGGGATTTGGAGGGGCCATGACAGATGCTGCTGCTCTCAACATCCTTGCCCTGTCACCCCCT NP_001165283.1:p.Met88AspfsTer6
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