Canonical Allele Identifier: CA347142
Gene: TBC1D24 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.2500425dupA
GRCh37 chr16:g.2550426dupA
gnomAD v4:
chr16-2500424-C-CA
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000192070
ClinVar Variation:
183156
dbSNP:
797044549
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2500425dup , CM000678.2:g.2500425dup GRCh38
NC_000016.9:g.2550426dup , CM000678.1:g.2550426dup GRCh37
NC_000016.8:g.2490427dup NCBI36
NG_028170.1:g.30280dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000567020.6:c.1442dup ENSP00000454408.1:p.His481GlnfsTer?
ENST00000569874.2:c.1442dup ENSP00000455005.2:p.His481GlnfsTer?
ENST00000646147.1:c.1460dup MANE Select ENSP00000494678.1:p.His487GlnfsTer?
ENST00000293970.9:c.1460dup ENSP00000293970.5:p.His487GlnfsTer?
ENST00000564543.1:c.965+3312dup ENSP00000455547.1:n.965+3312dup
ENST00000564879.2:c.329dup
ENST00000567020.5:c.1442dup ENSP00000454408.1:p.His481GlnfsTer?
ENST00000627285.1:c.1442dup ENSP00000486121.1:p.His481GlnfsTer?
ENST00000630263.2:c.*418dup ENSP00000486835.1:n.*418dup
NM_001199107.1:c.1460dup NP_001186036.1:p.His487GlnfsTer?
NM_020705.2:c.1442dup NP_065756.1:p.His481GlnfsTer?
XM_017023493.1:c.1460dup XP_016878982.1:p.His487GlnfsTer?
XM_017023494.1:c.1442dup XP_016878983.1:p.His481GlnfsTer?
XM_017023495.1:c.1442dup XP_016878984.1:p.His481GlnfsTer?
XR_001751956.1:n.1642dup
NM_001199107.2:c.1460dup MANE Select NP_001186036.1:p.His487GlnfsTer?
NM_020705.3:c.1442dup NP_065756.1:p.His481GlnfsTer?
Search 100 bp 5'
Search 100 bp 3'