Canonical Allele Identifier: CA2481202655

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155237927_155237931delinsTAAAA , CM000663.2:g.155237927_155237931delinsTAAAA	GRCh38
NC_000001.10:g.155207718_155207722delinsTAAAA , CM000663.1:g.155207718_155207722delinsTAAAA	GRCh37
NC_000001.9:g.153474342_153474346delinsTAAAA	NCBI36
NG_009783.1:g.11767_11771delinsTTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.761+203_761+207delinsTTTTA MANE Select	ENSP00000357357.3:n.761+203_761+207delinsTTTTA
ENST00000327247.9:c.761+203_761+207delinsTTTTA	ENSP00000314508.5:n.761+203_761+207delinsTTTTA
ENST00000368373.7:c.761+203_761+207delinsTTTTA	ENSP00000357357.3:n.761+203_761+207delinsTTTTA
ENST00000427500.7:c.614+203_614+207delinsTTTTA	ENSP00000402577.2:n.614+203_614+207delinsTTTTA
ENST00000428024.3:c.500+203_500+207delinsTTTTA	ENSP00000397986.2:n.500+203_500+207delinsTTTTA
ENST00000484489.5:n.340-1643_340-1639delinsTTTTA
ENST00000491081.5:n.366+203_366+207delinsTTTTA
ENST00000497670.5:n.384+203_384+207delinsTTTTA
NM_000157.3:c.761+203_761+207delinsTTTTA	NP_000148.2:n.761+203_761+207delinsTTTTA
NM_001005741.2:c.761+203_761+207delinsTTTTA	NP_001005741.1:n.761+203_761+207delinsTTTTA
NM_001005742.2:c.761+203_761+207delinsTTTTA	NP_001005742.1:n.761+203_761+207delinsTTTTA
NM_001171811.1:c.500+203_500+207delinsTTTTA	NP_001165282.1:n.500+203_500+207delinsTTTTA
NM_001171812.1:c.614+203_614+207delinsTTTTA	NP_001165283.1:n.614+203_614+207delinsTTTTA
XM_006711270.1:c.761+203_761+207delinsTTTTA	XP_006711333.1:n.761+203_761+207delinsTTTTA
XM_011509407.1:c.761+203_761+207delinsTTTTA	XP_011507709.1:n.761+203_761+207delinsTTTTA
NM_000157.4:c.761+203_761+207delinsTTTTA MANE Select	NP_000148.2:n.761+203_761+207delinsTTTTA
NM_001005741.3:c.761+203_761+207delinsTTTTA	NP_001005741.1:n.761+203_761+207delinsTTTTA
NM_001005742.3:c.761+203_761+207delinsTTTTA	NP_001005742.1:n.761+203_761+207delinsTTTTA
NM_001171811.2:c.500+203_500+207delinsTTTTA	NP_001165282.1:n.500+203_500+207delinsTTTTA
NM_001171812.2:c.614+203_614+207delinsTTTTA	NP_001165283.1:n.614+203_614+207delinsTTTTA