Canonical Allele Identifier: CA645538230
Gene: GABRB1 HGNC NCBI

Linked Data

COSMIC: COSM5202427
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406899_47406901del , CM000666.2:g.47406899_47406901del GRCh38
NC_000004.11:g.47408916_47408918del , CM000666.1:g.47408916_47408918del GRCh37
NC_000004.10:g.47103673_47103675del NCBI36
NG_051831.1:g.380622_380624del

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1053_1055del MANE Select ENSP00000295454.3:p.Lys351del
ENST00000295454.7:c.1053_1055del ENSP00000295454.3:p.Lys351del
NM_000812.3:c.1053_1055del NP_000803.2:p.Lys351del
XM_011513678.1:c.1032_1034del XP_011511980.1:p.Lys344del
XM_017007985.1:c.402_404del XP_016863474.1:p.Lys134del
XM_024453976.1:c.954_956del XP_024309744.1:p.Lys318del
XM_024453977.1:c.954_956del XP_024309745.1:p.Lys318del
XM_024453978.1:c.954_956del XP_024309746.1:p.Lys318del
NM_000812.4:c.1053_1055del MANE Select NP_000803.2:p.Lys351del
Search 100 bp 5'
Search 100 bp 3'