Canonical Allele Identifier: CA1455320693
Gene: GABRB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406953_47406954delinsAT , CM000666.2:g.47406953_47406954delinsAT GRCh38
NC_000004.11:g.47408970_47408971delinsAT , CM000666.1:g.47408970_47408971delinsAT GRCh37
NC_000004.10:g.47103727_47103728delinsAT NCBI36
NG_051831.1:g.380676_380677delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1080+27_1080+28delinsAT MANE Select ENSP00000295454.3:n.1080+27_1080+28delinsAT
ENST00000295454.7:c.1080+27_1080+28delinsAT ENSP00000295454.3:n.1080+27_1080+28delinsAT
NM_000812.3:c.1080+27_1080+28delinsAT NP_000803.2:n.1080+27_1080+28delinsAT
XM_011513678.1:c.1059+27_1059+28delinsAT XP_011511980.1:n.1059+27_1059+28delinsAT
XM_017007985.1:c.429+27_429+28delinsAT XP_016863474.1:n.429+27_429+28delinsAT
XM_024453976.1:c.981+27_981+28delinsAT XP_024309744.1:n.981+27_981+28delinsAT
XM_024453977.1:c.981+27_981+28delinsAT XP_024309745.1:n.981+27_981+28delinsAT
XM_024453978.1:c.981+27_981+28delinsAT XP_024309746.1:n.981+27_981+28delinsAT
NM_000812.4:c.1080+27_1080+28delinsAT MANE Select NP_000803.2:n.1080+27_1080+28delinsAT