Canonical Allele Identifier: CA97302396

Gene: GABRB1

Linked Data

• dbSNP Id: rs1010279294
• gnomAD v3: 4-47406437-T-TA
• gnomAD v4: 4-47406437-T-TA
• MyVariant Identifiers: chr4:g.47408454_47408455insA (hg19) ; chr4:g.47406437_47406438insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406444dup , CM000666.2:g.47406444dup	GRCh38
NC_000004.11:g.47408461dup , CM000666.1:g.47408461dup	GRCh37
NC_000004.10:g.47103218dup	NCBI36
NG_051831.1:g.380167dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295454.8:c.836-238dup MANE Select	ENSP00000295454.3:n.836-238dup
ENST00000295454.7:c.836-238dup	ENSP00000295454.3:n.836-238dup
NM_000812.3:c.836-238dup	NP_000803.2:n.836-238dup
XM_011513678.1:c.815-238dup	XP_011511980.1:n.815-238dup
XM_017007985.1:c.185-238dup	XP_016863474.1:n.185-238dup
XM_024453976.1:c.737-238dup	XP_024309744.1:n.737-238dup
XM_024453977.1:c.737-238dup	XP_024309745.1:n.737-238dup
XM_024453978.1:c.737-238dup	XP_024309746.1:n.737-238dup
NM_000812.4:c.836-238dup MANE Select	NP_000803.2:n.836-238dup