Canonical Allele Identifier: CA551310833
Gene: GABRB1 HGNC NCBI

Linked Data

dbSNP Id: rs1010279294
gnomAD v2: 4-47408454-TA-T
gnomAD v3: 4-47406437-TA-T
gnomAD v4: 4-47406437-TA-T
COSMIC: COSN22797503
MyVariant Identifiers: chr4:g.47408455del (hg19) chr4:g.47406438del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406444del , CM000666.2:g.47406444del GRCh38
NC_000004.11:g.47408461del , CM000666.1:g.47408461del GRCh37
NC_000004.10:g.47103218del NCBI36
NG_051831.1:g.380167del

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.836-238del MANE Select ENSP00000295454.3:n.836-238del
ENST00000295454.7:c.836-238del ENSP00000295454.3:n.836-238del
NM_000812.3:c.836-238del NP_000803.2:n.836-238del
XM_011513678.1:c.815-238del XP_011511980.1:n.815-238del
XM_017007985.1:c.185-238del XP_016863474.1:n.185-238del
XM_024453976.1:c.737-238del XP_024309744.1:n.737-238del
XM_024453977.1:c.737-238del XP_024309745.1:n.737-238del
XM_024453978.1:c.737-238del XP_024309746.1:n.737-238del
NM_000812.4:c.836-238del MANE Select NP_000803.2:n.836-238del
Search 100 bp 5'
Search 100 bp 3'