Canonical Allele Identifier: CA2670529715

Gene: GABRB1

Linked Data

• gnomAD v4: 4-47406982-GCCTCGGGCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406984_47406992del , CM000666.2:g.47406984_47406992del	GRCh38
NC_000004.11:g.47409001_47409009del , CM000666.1:g.47409001_47409009del	GRCh37
NC_000004.10:g.47103758_47103766del	NCBI36
NG_051831.1:g.380707_380715del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295454.8:c.1080+58_1080+66del MANE Select	ENSP00000295454.3:n.1080+58_1080+66del
ENST00000295454.7:c.1080+58_1080+66del	ENSP00000295454.3:n.1080+58_1080+66del
NM_000812.3:c.1080+58_1080+66del	NP_000803.2:n.1080+58_1080+66del
XM_011513678.1:c.1059+58_1059+66del	XP_011511980.1:n.1059+58_1059+66del
XM_017007985.1:c.429+58_429+66del	XP_016863474.1:n.429+58_429+66del
XM_024453976.1:c.981+58_981+66del	XP_024309744.1:n.981+58_981+66del
XM_024453977.1:c.981+58_981+66del	XP_024309745.1:n.981+58_981+66del
XM_024453978.1:c.981+58_981+66del	XP_024309746.1:n.981+58_981+66del
NM_000812.4:c.1080+58_1080+66del MANE Select	NP_000803.2:n.1080+58_1080+66del