Canonical Allele Identifier: CA97302394

Gene: GABRB1

Linked Data

• dbSNP Id: rs1056790629
• gnomAD v2: 4-47408452-ATT-A
• gnomAD v3: 4-47406435-ATT-A
• gnomAD v4: 4-47406435-ATT-A
• MyVariant Identifiers: chr4:g.47408453_47408454del (hg19) ; chr4:g.47406436_47406437del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406436_47406437del , CM000666.2:g.47406436_47406437del	GRCh38
NC_000004.11:g.47408453_47408454del , CM000666.1:g.47408453_47408454del	GRCh37
NC_000004.10:g.47103210_47103211del	NCBI36
NG_051831.1:g.380159_380160del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295454.8:c.836-246_836-245del MANE Select	ENSP00000295454.3:n.836-246_836-245del
ENST00000295454.7:c.836-246_836-245del	ENSP00000295454.3:n.836-246_836-245del
NM_000812.3:c.836-246_836-245del	NP_000803.2:n.836-246_836-245del
XM_011513678.1:c.815-246_815-245del	XP_011511980.1:n.815-246_815-245del
XM_017007985.1:c.185-246_185-245del	XP_016863474.1:n.185-246_185-245del
XM_024453976.1:c.737-246_737-245del	XP_024309744.1:n.737-246_737-245del
XM_024453977.1:c.737-246_737-245del	XP_024309745.1:n.737-246_737-245del
XM_024453978.1:c.737-246_737-245del	XP_024309746.1:n.737-246_737-245del
NM_000812.4:c.836-246_836-245del MANE Select	NP_000803.2:n.836-246_836-245del