Canonical Allele Identifier: CA2670529626

Gene: GABRB1

Linked Data

• gnomAD v4: 4-47406544-TGCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406545_47406548del , CM000666.2:g.47406545_47406548del	GRCh38
NC_000004.11:g.47408562_47408565del , CM000666.1:g.47408562_47408565del	GRCh37
NC_000004.10:g.47103319_47103322del	NCBI36
NG_051831.1:g.380268_380271del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295454.8:c.836-137_836-134del MANE Select	ENSP00000295454.3:n.836-137_836-134del
ENST00000295454.7:c.836-137_836-134del	ENSP00000295454.3:n.836-137_836-134del
NM_000812.3:c.836-137_836-134del	NP_000803.2:n.836-137_836-134del
XM_011513678.1:c.815-137_815-134del	XP_011511980.1:n.815-137_815-134del
XM_017007985.1:c.185-137_185-134del	XP_016863474.1:n.185-137_185-134del
XM_024453976.1:c.737-137_737-134del	XP_024309744.1:n.737-137_737-134del
XM_024453977.1:c.737-137_737-134del	XP_024309745.1:n.737-137_737-134del
XM_024453978.1:c.737-137_737-134del	XP_024309746.1:n.737-137_737-134del
NM_000812.4:c.836-137_836-134del MANE Select	NP_000803.2:n.836-137_836-134del