Canonical Allele Identifier: CA2670529625

Gene: GABRB1

Linked Data

• gnomAD v4: 4-47406539-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406544del , CM000666.2:g.47406544del	GRCh38
NC_000004.11:g.47408561del , CM000666.1:g.47408561del	GRCh37
NC_000004.10:g.47103318del	NCBI36
NG_051831.1:g.380267del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295454.8:c.836-138del MANE Select	ENSP00000295454.3:n.836-138del
ENST00000295454.7:c.836-138del	ENSP00000295454.3:n.836-138del
NM_000812.3:c.836-138del	NP_000803.2:n.836-138del
XM_011513678.1:c.815-138del	XP_011511980.1:n.815-138del
XM_017007985.1:c.185-138del	XP_016863474.1:n.185-138del
XM_024453976.1:c.737-138del	XP_024309744.1:n.737-138del
XM_024453977.1:c.737-138del	XP_024309745.1:n.737-138del
XM_024453978.1:c.737-138del	XP_024309746.1:n.737-138del
NM_000812.4:c.836-138del MANE Select	NP_000803.2:n.836-138del