Canonical Allele Identifier: CA967935351

Gene: GABRB3

Linked Data

• dbSNP Id: rs1890751912
• gnomAD v3: 15-26580526-CA-C
• gnomAD v4: 15-26580526-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26580527del , CM000677.2:g.26580527del	GRCh38
NC_000015.9:g.26825674del , CM000677.1:g.26825674del	GRCh37
NC_000015.8:g.24376767del	NCBI36
NG_012836.1:g.198254del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299267.9:c.545-71del	ENSP00000299267.4:n.545-71del
ENST00000311550.10:c.545-71del MANE Select	ENSP00000308725.5:n.545-71del
ENST00000635832.1:n.588-71del
ENST00000635994.1:c.228-71del
ENST00000636466.1:c.290-71del	ENSP00000489768.1:n.290-71del
ENST00000638099.1:c.446-71del	ENSP00000490678.1:n.446-71del
ENST00000299267.8:c.545-71del	ENSP00000299267.4:n.545-71del
ENST00000311550.9:c.545-71del	ENSP00000308725.5:n.545-71del
ENST00000400188.7:c.332-71del	ENSP00000383049.3:n.332-71del
ENST00000541819.6:c.713-71del	ENSP00000442408.2:n.713-71del
ENST00000545868.4:c.290-71del	ENSP00000439169.1:n.290-71del
ENST00000554556.5:c.*6-71del	ENSP00000451077.1:n.*6-71del
ENST00000555094.5:n.457-71del
ENST00000555632.5:c.*377-71del	ENSP00000452041.1:n.*377-71del
ENST00000557765.1:n.145del
ENST00000622697.4:c.290-71del	ENSP00000481004.1:n.290-71del
ENST00000628124.2:c.290-71del	ENSP00000486819.1:n.290-71del
NM_000814.5:c.545-71del	NP_000805.1:n.545-71del
NM_001191320.1:c.290-71del	NP_001178249.1:n.290-71del
NM_001191321.2:c.332-71del	NP_001178250.1:n.332-71del
NM_001278631.1:c.290-71del	NP_001265560.1:n.290-71del
NM_021912.4:c.545-71del	NP_068712.1:n.545-71del
XM_011521428.1:c.368-71del	XP_011519730.1:n.368-71del
XM_011521428.3:c.368-71del	XP_011519730.1:n.368-71del
NM_000814.6:c.545-71del MANE Select	NP_000805.1:n.545-71del
NM_001191321.3:c.332-71del	NP_001178250.1:n.332-71del
NM_021912.5:c.545-71del	NP_068712.1:n.545-71del
NM_001191320.2:c.290-71del	NP_001178249.1:n.290-71del
NM_001278631.2:c.290-71del	NP_001265560.1:n.290-71del