Canonical Allele Identifier: CA2648251632

Gene: GBA1

Linked Data

• gnomAD v4: 1-155237849-TGAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155237852_155237854del , CM000663.2:g.155237852_155237854del	GRCh38
NC_000001.10:g.155207643_155207645del , CM000663.1:g.155207643_155207645del	GRCh37
NC_000001.9:g.153474267_153474269del	NCBI36
NG_009783.1:g.11846_11848del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.762-274_762-272del MANE Select	ENSP00000357357.3:n.762-274_762-272del
ENST00000327247.9:c.762-274_762-272del	ENSP00000314508.5:n.762-274_762-272del
ENST00000368373.7:c.762-274_762-272del	ENSP00000357357.3:n.762-274_762-272del
ENST00000427500.7:c.615-274_615-272del	ENSP00000402577.2:n.615-274_615-272del
ENST00000428024.3:c.501-274_501-272del	ENSP00000397986.2:n.501-274_501-272del
ENST00000484489.5:n.340-1564_340-1562del
ENST00000491081.5:n.367-274_367-272del
ENST00000497670.5:n.385-274_385-272del
NM_000157.3:c.762-274_762-272del	NP_000148.2:n.762-274_762-272del
NM_001005741.2:c.762-274_762-272del	NP_001005741.1:n.762-274_762-272del
NM_001005742.2:c.762-274_762-272del	NP_001005742.1:n.762-274_762-272del
NM_001171811.1:c.501-274_501-272del	NP_001165282.1:n.501-274_501-272del
NM_001171812.1:c.615-274_615-272del	NP_001165283.1:n.615-274_615-272del
XM_006711270.1:c.762-274_762-272del	XP_006711333.1:n.762-274_762-272del
XM_011509407.1:c.762-274_762-272del	XP_011507709.1:n.762-274_762-272del
NM_000157.4:c.762-274_762-272del MANE Select	NP_000148.2:n.762-274_762-272del
NM_001005741.3:c.762-274_762-272del	NP_001005741.1:n.762-274_762-272del
NM_001005742.3:c.762-274_762-272del	NP_001005742.1:n.762-274_762-272del
NM_001171811.2:c.501-274_501-272del	NP_001165282.1:n.501-274_501-272del
NM_001171812.2:c.615-274_615-272del	NP_001165283.1:n.615-274_615-272del