Canonical Allele Identifier: CA1455320694
Gene: GABRB1 HGNC NCBI

Linked Data

dbSNP Id: rs1728595121
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406955del , CM000666.2:g.47406955del GRCh38
NC_000004.11:g.47408972del , CM000666.1:g.47408972del GRCh37
NC_000004.10:g.47103729del NCBI36
NG_051831.1:g.380678del

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1080+29del MANE Select ENSP00000295454.3:n.1080+29del
ENST00000295454.7:c.1080+29del ENSP00000295454.3:n.1080+29del
NM_000812.3:c.1080+29del NP_000803.2:n.1080+29del
XM_011513678.1:c.1059+29del XP_011511980.1:n.1059+29del
XM_017007985.1:c.429+29del XP_016863474.1:n.429+29del
XM_024453976.1:c.981+29del XP_024309744.1:n.981+29del
XM_024453977.1:c.981+29del XP_024309745.1:n.981+29del
XM_024453978.1:c.981+29del XP_024309746.1:n.981+29del
NM_000812.4:c.1080+29del MANE Select NP_000803.2:n.1080+29del
Search 100 bp 5'
Search 100 bp 3'