Canonical Allele Identifier: CA2508027497
Gene: GABRB1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406963_47406971del , CM000666.2:g.47406963_47406971del GRCh38
NC_000004.11:g.47408980_47408988del , CM000666.1:g.47408980_47408988del GRCh37
NC_000004.10:g.47103737_47103745del NCBI36
NG_051831.1:g.380686_380694del

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1080+37_1080+45del MANE Select ENSP00000295454.3:n.1080+37_1080+45del
ENST00000295454.7:c.1080+37_1080+45del ENSP00000295454.3:n.1080+37_1080+45del
NM_000812.3:c.1080+37_1080+45del NP_000803.2:n.1080+37_1080+45del
XM_011513678.1:c.1059+37_1059+45del XP_011511980.1:n.1059+37_1059+45del
XM_017007985.1:c.429+37_429+45del XP_016863474.1:n.429+37_429+45del
XM_024453976.1:c.981+37_981+45del XP_024309744.1:n.981+37_981+45del
XM_024453977.1:c.981+37_981+45del XP_024309745.1:n.981+37_981+45del
XM_024453978.1:c.981+37_981+45del XP_024309746.1:n.981+37_981+45del
NM_000812.4:c.1080+37_1080+45del MANE Select NP_000803.2:n.1080+37_1080+45del
Search 100 bp 5'
Search 100 bp 3'