Canonical Allele Identifier: CA2481203614

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239777_155239778delinsAG , CM000663.2:g.155239777_155239778delinsAG	GRCh38
NC_000001.10:g.155209568_155209569delinsAG , CM000663.1:g.155209568_155209569delinsAG	GRCh37
NC_000001.9:g.153476192_153476193delinsAG	NCBI36
NG_009783.1:g.9920_9921delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.308-16_308-15delinsCT MANE Select	ENSP00000357357.3:n.308-16_308-15delinsCT
ENST00000327247.9:c.308-16_308-15delinsCT	ENSP00000314508.5:n.308-16_308-15delinsCT
ENST00000368373.7:c.308-16_308-15delinsCT	ENSP00000357357.3:n.308-16_308-15delinsCT
ENST00000427500.7:c.307+108_307+109delinsCT	ENSP00000402577.2:n.307+108_307+109delinsCT
ENST00000428024.3:c.47-16_47-15delinsCT	ENSP00000397986.2:n.47-16_47-15delinsCT
ENST00000467918.5:n.498-16_498-15delinsCT
ENST00000473570.5:n.629-16_629-15delinsCT
ENST00000484489.5:n.339+195_339+196delinsCT
ENST00000493842.5:n.646-16_646-15delinsCT
ENST00000497670.5:n.77+108_77+109delinsCT
NM_000157.3:c.308-16_308-15delinsCT	NP_000148.2:n.308-16_308-15delinsCT
NM_001005741.2:c.308-16_308-15delinsCT	NP_001005741.1:n.308-16_308-15delinsCT
NM_001005742.2:c.308-16_308-15delinsCT	NP_001005742.1:n.308-16_308-15delinsCT
NM_001171811.1:c.47-16_47-15delinsCT	NP_001165282.1:n.47-16_47-15delinsCT
NM_001171812.1:c.307+108_307+109delinsCT	NP_001165283.1:n.307+108_307+109delinsCT
XM_006711270.1:c.308-16_308-15delinsCT	XP_006711333.1:n.308-16_308-15delinsCT
XM_011509407.1:c.308-16_308-15delinsCT	XP_011507709.1:n.308-16_308-15delinsCT
NM_000157.4:c.308-16_308-15delinsCT MANE Select	NP_000148.2:n.308-16_308-15delinsCT
NM_001005741.3:c.308-16_308-15delinsCT	NP_001005741.1:n.308-16_308-15delinsCT
NM_001005742.3:c.308-16_308-15delinsCT	NP_001005742.1:n.308-16_308-15delinsCT
NM_001171811.2:c.47-16_47-15delinsCT	NP_001165282.1:n.47-16_47-15delinsCT
NM_001171812.2:c.307+108_307+109delinsCT	NP_001165283.1:n.307+108_307+109delinsCT