Canonical Allele Identifier: CA2670529722

Gene: GABRB1

Linked Data

• gnomAD v4: 4-47406989-GCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406993_47406994del , CM000666.2:g.47406993_47406994del	GRCh38
NC_000004.11:g.47409010_47409011del , CM000666.1:g.47409010_47409011del	GRCh37
NC_000004.10:g.47103767_47103768del	NCBI36
NG_051831.1:g.380716_380717del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295454.8:c.1080+67_1080+68del MANE Select	ENSP00000295454.3:n.1080+67_1080+68del
ENST00000295454.7:c.1080+67_1080+68del	ENSP00000295454.3:n.1080+67_1080+68del
NM_000812.3:c.1080+67_1080+68del	NP_000803.2:n.1080+67_1080+68del
XM_011513678.1:c.1059+67_1059+68del	XP_011511980.1:n.1059+67_1059+68del
XM_017007985.1:c.429+67_429+68del	XP_016863474.1:n.429+67_429+68del
XM_024453976.1:c.981+67_981+68del	XP_024309744.1:n.981+67_981+68del
XM_024453977.1:c.981+67_981+68del	XP_024309745.1:n.981+67_981+68del
XM_024453978.1:c.981+67_981+68del	XP_024309746.1:n.981+67_981+68del
NM_000812.4:c.1080+67_1080+68del MANE Select	NP_000803.2:n.1080+67_1080+68del