Canonical Allele Identifier: CA711585400
Gene: GABRB3 HGNC NCBI

Linked Data

dbSNP Id: rs1410708897
gnomAD v3: 15-26773697-G-GCAGGAGCTC
gnomAD v4: 15-26773697-G-GCAGGAGCTC
MyVariant Identifiers: chr15:g.27018844_27018845insCAGGAGCTC (hg19) chr15:g.26773697_26773698insCAGGAGCTC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.26773705_26773713dup , CM000677.2:g.26773705_26773713dup GRCh38
NC_000015.9:g.27018852_27018860dup , CM000677.1:g.27018852_27018860dup GRCh37
NC_000015.8:g.24569945_24569953dup NCBI36
NG_012836.1:g.5075_5083dup

Transcript Alleles

HGVS Amino-acid change
ENST00000299267.9:c.19_27dup ENSP00000299267.4:p.Leu9_Leu10insGluLeuLe...
ENST00000638099.1:c.-20+237_-20+245dup ENSP00000490678.1:n.-20+237_-20+245dup
ENST00000299267.8:c.19_27dup ENSP00000299267.4:p.Leu9_Leu10insGluLeuLe...
ENST00000541819.6:c.249-934_249-926dup ENSP00000442408.2:n.249-934_249-926dup
ENST00000554722.1:n.46_54dup
ENST00000557641.5:n.453-934_453-926dup
NM_021912.4:c.19_27dup NP_068712.1:p.Leu9_Leu10insGluLeuLeu
NM_021912.5:c.19_27dup NP_068712.1:p.Leu9_Leu10insGluLeuLeu
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