Canonical Allele Identifier: CA2627364211

Gene: GABRB3

Linked Data

• gnomAD v4: 15-26773751-TGGGATCCGCTCTCCCCCCTACTCTCCGAGCAGCCAAACGGCGACGCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26773759_26773805del , CM000677.2:g.26773759_26773805del	GRCh38
NC_000015.9:g.27018906_27018952del , CM000677.1:g.27018906_27018952del	GRCh37
NC_000015.8:g.24569999_24570045del	NCBI36
NG_012836.1:g.4983_5029del

Transcript Alleles

HGVS	Amino-acid change
ENST00000638099.1:c.-20+145_-20+191del	ENSP00000490678.1:n.-20+145_-20+191del
ENST00000541819.6:c.249-1026_249-980del	ENSP00000442408.2:n.249-1026_249-980del
ENST00000557641.5:n.453-1026_453-980del