Canonical Allele Identifier: CA2481203407

Gene: GBA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155239615_155239618delinsCCTT , CM000663.2:g.155239615_155239618delinsCCTT	GRCh38
NC_000001.10:g.155209406_155209409delinsCCTT , CM000663.1:g.155209406_155209409delinsCCTT	GRCh37
NC_000001.9:g.153476030_153476033delinsCCTT	NCBI36
NG_009783.1:g.10080_10083delinsAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.452_454+1delinsAAGG
ENST00000327247.9:c.452_454+1delinsAAGG
ENST00000368373.7:c.452_454+1delinsAAGG
ENST00000427500.7:c.307+268_307+271delinsAAGG	ENSP00000402577.2:n.307+268_307+271delinsAAGG
ENST00000428024.3:c.191_193+1delinsAAGG
ENST00000473570.5:n.773_775+1delinsAAGG
ENST00000484489.5:n.339+355_339+358delinsAAGG
ENST00000493842.5:n.790_792+1delinsAAGG
ENST00000497670.5:n.77+268_77+271delinsAAGG
NM_000157.3:c.452_454+1delinsAAGG
NM_001005741.2:c.452_454+1delinsAAGG
NM_001005742.2:c.452_454+1delinsAAGG
NM_001171811.1:c.191_193+1delinsAAGG
NM_001171812.1:c.307+268_307+271delinsAAGG	NP_001165283.1:n.307+268_307+271delinsAAGG
XM_006711270.1:c.452_454+1delinsAAGG
XM_011509407.1:c.452_454+1delinsAAGG
NM_000157.4:c.452_454+1delinsAAGG
NM_001005741.3:c.452_454+1delinsAAGG
NM_001005742.3:c.452_454+1delinsAAGG
NM_001171811.2:c.191_193+1delinsAAGG
NM_001171812.2:c.307+268_307+271delinsAAGG	NP_001165283.1:n.307+268_307+271delinsAAGG