Canonical Allele Identifier: CA97302441
Gene: GABRB1 HGNC NCBI

Linked Data

dbSNP Id: rs765453753
gnomAD v2: 4-47409038-AT-A
gnomAD v3: 4-47407021-AT-A
gnomAD v4: 4-47407021-AT-A
MyVariant Identifiers: chr4:g.47409039del (hg19) chr4:g.47407022del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47407022del , CM000666.2:g.47407022del GRCh38
NC_000004.11:g.47409039del , CM000666.1:g.47409039del GRCh37
NC_000004.10:g.47103796del NCBI36
NG_051831.1:g.380745del

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1080+96del MANE Select ENSP00000295454.3:n.1080+96del
ENST00000295454.7:c.1080+96del ENSP00000295454.3:n.1080+96del
NM_000812.3:c.1080+96del NP_000803.2:n.1080+96del
XM_011513678.1:c.1059+96del XP_011511980.1:n.1059+96del
XM_017007985.1:c.429+96del XP_016863474.1:n.429+96del
XM_024453976.1:c.981+96del XP_024309744.1:n.981+96del
XM_024453977.1:c.981+96del XP_024309745.1:n.981+96del
XM_024453978.1:c.981+96del XP_024309746.1:n.981+96del
NM_000812.4:c.1080+96del MANE Select NP_000803.2:n.1080+96del
Search 100 bp 5'
Search 100 bp 3'