Canonical Allele Identifier: CA2628987120
Gene: KBTBD13 HGNC NCBI

Linked Data

gnomAD v4: 15-65077395-CCCCTGGAGGCCAGCACGTTGCTGGCCGGG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077396_65077424del , CM000677.2:g.65077396_65077424del GRCh38
NC_000015.9:g.65369734_65369762del , CM000677.1:g.65369734_65369762del GRCh37
NC_000015.8:g.63156787_63156815del NCBI36
NG_021411.1:g.5581_5609del , LRG_682:g.5581_5609del

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.581_609del MANE Select ENSP00000388723.2:p.Pro194ArgfsTer?
ENST00000432196.3:c.581_609del ENSP00000388723.2:p.Pro194ArgfsTer?
NM_001101362.2:c.581_609del , LRG_682t1:c.581_609del NP_001094832.1:p.Pro194ArgfsTer?
NM_001101362.3:c.581_609del MANE Select NP_001094832.1:p.Pro194ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'