Canonical Allele Identifier: CA2830536738
Gene: GABRB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406964_47406965dup , CM000666.2:g.47406964_47406965dup GRCh38
NC_000004.11:g.47408981_47408982dup , CM000666.1:g.47408981_47408982dup GRCh37
NC_000004.10:g.47103738_47103739dup NCBI36
NG_051831.1:g.380687_380688dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1080+38_1080+39dup MANE Select ENSP00000295454.3:n.1080+38_1080+39dup
ENST00000295454.7:c.1080+38_1080+39dup ENSP00000295454.3:n.1080+38_1080+39dup
NM_000812.3:c.1080+38_1080+39dup NP_000803.2:n.1080+38_1080+39dup
XM_011513678.1:c.1059+38_1059+39dup XP_011511980.1:n.1059+38_1059+39dup
XM_017007985.1:c.429+38_429+39dup XP_016863474.1:n.429+38_429+39dup
XM_024453976.1:c.981+38_981+39dup XP_024309744.1:n.981+38_981+39dup
XM_024453977.1:c.981+38_981+39dup XP_024309745.1:n.981+38_981+39dup
XM_024453978.1:c.981+38_981+39dup XP_024309746.1:n.981+38_981+39dup
NM_000812.4:c.1080+38_1080+39dup MANE Select NP_000803.2:n.1080+38_1080+39dup