Canonical Allele Identifier: CA2575651429

Gene: GABRB3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.26561185_26561186del , CM000677.2:g.26561185_26561186del	GRCh38
NC_000015.9:g.26806332_26806333del , CM000677.1:g.26806332_26806333del	GRCh37
NC_000015.8:g.24357425_24357426del	NCBI36
NG_012836.1:g.217596_217597del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299267.9:c.836-9_836-8del	ENSP00000299267.4:n.836-9_836-8del
ENST00000311550.10:c.836-9_836-8del MANE Select	ENSP00000308725.5:n.836-9_836-8del
ENST00000635832.1:n.879-9_879-8del
ENST00000635994.1:c.519-9_519-8del
ENST00000636466.1:c.581-9_581-8del	ENSP00000489768.1:n.581-9_581-8del
ENST00000638099.1:c.737-9_737-8del	ENSP00000490678.1:n.737-9_737-8del
ENST00000299267.8:c.836-9_836-8del	ENSP00000299267.4:n.836-9_836-8del
ENST00000311550.9:c.836-9_836-8del	ENSP00000308725.5:n.836-9_836-8del
ENST00000400188.7:c.623-9_623-8del	ENSP00000383049.3:n.623-9_623-8del
ENST00000541819.6:c.1004-9_1004-8del	ENSP00000442408.2:n.1004-9_1004-8del
ENST00000545868.4:c.581-9_581-8del	ENSP00000439169.1:n.581-9_581-8del
ENST00000554556.5:c.*297-9_*297-8del	ENSP00000451077.1:n.*297-9_*297-8del
ENST00000555094.5:n.748-9_748-8del
ENST00000555632.5:c.*668-9_*668-8del	ENSP00000452041.1:n.*668-9_*668-8del
ENST00000557765.1:n.507-9_507-8del
ENST00000622697.4:c.581-9_581-8del	ENSP00000481004.1:n.581-9_581-8del
ENST00000628124.2:c.581-9_581-8del	ENSP00000486819.1:n.581-9_581-8del
NM_000814.5:c.836-9_836-8del	NP_000805.1:n.836-9_836-8del
NM_001191320.1:c.581-9_581-8del	NP_001178249.1:n.581-9_581-8del
NM_001191321.2:c.623-9_623-8del	NP_001178250.1:n.623-9_623-8del
NM_001278631.1:c.581-9_581-8del	NP_001265560.1:n.581-9_581-8del
NM_021912.4:c.836-9_836-8del	NP_068712.1:n.836-9_836-8del
XM_011521428.1:c.659-9_659-8del	XP_011519730.1:n.659-9_659-8del
XM_011521428.3:c.659-9_659-8del	XP_011519730.1:n.659-9_659-8del
NM_000814.6:c.836-9_836-8del MANE Select	NP_000805.1:n.836-9_836-8del
NM_001191321.3:c.623-9_623-8del	NP_001178250.1:n.623-9_623-8del
NM_021912.5:c.836-9_836-8del	NP_068712.1:n.836-9_836-8del
NM_001191320.2:c.581-9_581-8del	NP_001178249.1:n.581-9_581-8del
NM_001278631.2:c.581-9_581-8del	NP_001265560.1:n.581-9_581-8del