Canonical Allele Identifier: CA97302423

Gene: GABRB1

Linked Data

• dbSNP Id: rs35402897
• MyVariant Identifiers: chr4:g.47408744del (hg19) ; chr4:g.47406727del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406729del , CM000666.2:g.47406729del	GRCh38
NC_000004.11:g.47408746del , CM000666.1:g.47408746del	GRCh37
NC_000004.10:g.47103503del	NCBI36
NG_051831.1:g.380452del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295454.8:c.883del MANE Select	ENSP00000295454.3:p.Glu295ArgfsTer16
ENST00000295454.7:c.883del	ENSP00000295454.3:p.Glu295ArgfsTer16
NM_000812.3:c.883del	NP_000803.2:p.Glu295ArgfsTer16
XM_011513678.1:c.862del	XP_011511980.1:p.Glu288ArgfsTer16
XM_017007985.1:c.232del	XP_016863474.1:p.Glu78ArgfsTer16
XM_024453976.1:c.784del	XP_024309744.1:p.Glu262ArgfsTer16
XM_024453977.1:c.784del	XP_024309745.1:p.Glu262ArgfsTer16
XM_024453978.1:c.784del	XP_024309746.1:p.Glu262ArgfsTer16
NM_000812.4:c.883del MANE Select	NP_000803.2:p.Glu295ArgfsTer16