Canonical Allele Identifier: CA2627364223

Gene: GABRB3

Linked Data

• gnomAD v4: 15-26773765-CCCCCTACTCTCCGAGCAGCCAAACGGCGACGCAGGGATCCCCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26773773_26773815del , CM000677.2:g.26773773_26773815del	GRCh38
NC_000015.9:g.27018920_27018962del , CM000677.1:g.27018920_27018962del	GRCh37
NC_000015.8:g.24570013_24570055del	NCBI36
NG_012836.1:g.4973_5015del

Transcript Alleles

HGVS	Amino-acid change
ENST00000638099.1:c.-20+135_-20+177del	ENSP00000490678.1:n.-20+135_-20+177del
ENST00000541819.6:c.249-1036_249-994del	ENSP00000442408.2:n.249-1036_249-994del
ENST00000557641.5:n.453-1036_453-994del