Canonical Allele Identifier: CA2830536737
Gene: GABRB1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406962_47406963insGG , CM000666.2:g.47406962_47406963insGG GRCh38
NC_000004.11:g.47408979_47408980insGG , CM000666.1:g.47408979_47408980insGG GRCh37
NC_000004.10:g.47103736_47103737insGG NCBI36
NG_051831.1:g.380685_380686insGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1080+36_1080+37insGG MANE Select ENSP00000295454.3:n.1080+36_1080+37insGG
ENST00000295454.7:c.1080+36_1080+37insGG ENSP00000295454.3:n.1080+36_1080+37insGG
NM_000812.3:c.1080+36_1080+37insGG NP_000803.2:n.1080+36_1080+37insGG
XM_011513678.1:c.1059+36_1059+37insGG XP_011511980.1:n.1059+36_1059+37insGG
XM_017007985.1:c.429+36_429+37insGG XP_016863474.1:n.429+36_429+37insGG
XM_024453976.1:c.981+36_981+37insGG XP_024309744.1:n.981+36_981+37insGG
XM_024453977.1:c.981+36_981+37insGG XP_024309745.1:n.981+36_981+37insGG
XM_024453978.1:c.981+36_981+37insGG XP_024309746.1:n.981+36_981+37insGG
NM_000812.4:c.1080+36_1080+37insGG MANE Select NP_000803.2:n.1080+36_1080+37insGG
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