Canonical Allele Identifier: CA1061956018

Gene: GABRB1

Linked Data

• dbSNP Id: rs1728568315
• gnomAD v3: 4-47406396-GATCTGCTTTTCC-G
• gnomAD v4: 4-47406396-GATCTGCTTTTCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406407_47406418del , CM000666.2:g.47406407_47406418del	GRCh38
NC_000004.11:g.47408424_47408435del , CM000666.1:g.47408424_47408435del	GRCh37
NC_000004.10:g.47103181_47103192del	NCBI36
NG_051831.1:g.380130_380141del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295454.8:c.836-275_836-264del MANE Select	ENSP00000295454.3:n.836-275_836-264del
ENST00000295454.7:c.836-275_836-264del	ENSP00000295454.3:n.836-275_836-264del
NM_000812.3:c.836-275_836-264del	NP_000803.2:n.836-275_836-264del
XM_011513678.1:c.815-275_815-264del	XP_011511980.1:n.815-275_815-264del
XM_017007985.1:c.185-275_185-264del	XP_016863474.1:n.185-275_185-264del
XM_024453976.1:c.737-275_737-264del	XP_024309744.1:n.737-275_737-264del
XM_024453977.1:c.737-275_737-264del	XP_024309745.1:n.737-275_737-264del
XM_024453978.1:c.737-275_737-264del	XP_024309746.1:n.737-275_737-264del
NM_000812.4:c.836-275_836-264del MANE Select	NP_000803.2:n.836-275_836-264del