Canonical Allele Identifier: CA392862501
Gene: KBTBD13 HGNC NCBI

Linked Data

ClinVar Variation Id: 1036820
ClinVar RCV Id: RCV001339881
dbSNP Id: rs1278649126
gnomAD v2: 15-65369856-G-A
gnomAD v3: 15-65077518-G-A
gnomAD v4: 15-65077518-G-A
COSMIC: COSM6404482
MyVariant Identifiers: chr15:g.65369856G>A (hg19) chr15:g.65369856_65369863delinsAGCGGCAC (hg19) chr15:g.65077518G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077518G>A , CM000677.2:g.65077518G>A GRCh38
NC_000015.9:g.65369856G>A , CM000677.1:g.65369856G>A GRCh37
NC_000015.8:g.63156909G>A NCBI36
NG_021411.1:g.5703G>A , LRG_682:g.5703G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000432196.5:c.703G>A MANE Select ENSP00000388723.2:p.Gly235Ser
ENST00000432196.3:c.703G>A ENSP00000388723.2:p.Gly235Ser
NM_001101362.2:c.703G>A , LRG_682t1:c.703G>A NP_001094832.1:p.Gly235Ser
NM_001101362.3:c.703G>A MANE Select NP_001094832.1:p.Gly235Ser
Search 100 bp 5'
Search 100 bp 3'