Canonical Allele Identifier: CA2648251748

Gene: GBA1

Linked Data

• gnomAD v4: 1-155237914-AAAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155237917_155237920del , CM000663.2:g.155237917_155237920del	GRCh38
NC_000001.10:g.155207708_155207711del , CM000663.1:g.155207708_155207711del	GRCh37
NC_000001.9:g.153474332_153474335del	NCBI36
NG_009783.1:g.11780_11783del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.761+216_761+219del MANE Select	ENSP00000357357.3:n.761+216_761+219del
ENST00000327247.9:c.761+216_761+219del	ENSP00000314508.5:n.761+216_761+219del
ENST00000368373.7:c.761+216_761+219del	ENSP00000357357.3:n.761+216_761+219del
ENST00000427500.7:c.614+216_614+219del	ENSP00000402577.2:n.614+216_614+219del
ENST00000428024.3:c.500+216_500+219del	ENSP00000397986.2:n.500+216_500+219del
ENST00000484489.5:n.340-1630_340-1627del
ENST00000491081.5:n.366+216_366+219del
ENST00000497670.5:n.384+216_384+219del
NM_000157.3:c.761+216_761+219del	NP_000148.2:n.761+216_761+219del
NM_001005741.2:c.761+216_761+219del	NP_001005741.1:n.761+216_761+219del
NM_001005742.2:c.761+216_761+219del	NP_001005742.1:n.761+216_761+219del
NM_001171811.1:c.500+216_500+219del	NP_001165282.1:n.500+216_500+219del
NM_001171812.1:c.614+216_614+219del	NP_001165283.1:n.614+216_614+219del
XM_006711270.1:c.761+216_761+219del	XP_006711333.1:n.761+216_761+219del
XM_011509407.1:c.761+216_761+219del	XP_011507709.1:n.761+216_761+219del
NM_000157.4:c.761+216_761+219del MANE Select	NP_000148.2:n.761+216_761+219del
NM_001005741.3:c.761+216_761+219del	NP_001005741.1:n.761+216_761+219del
NM_001005742.3:c.761+216_761+219del	NP_001005742.1:n.761+216_761+219del
NM_001171811.2:c.500+216_500+219del	NP_001165282.1:n.500+216_500+219del
NM_001171812.2:c.614+216_614+219del	NP_001165283.1:n.614+216_614+219del