Canonical Allele Identifier: CA719315782

Gene: TBC1D24

Linked Data

• ClinVar Variation Id: 591773
• ClinVar RCV Id: RCV000722955
• dbSNP Id: rs1418389627
• gnomAD v3: 16-2496534-CCTT-C
• gnomAD v4: 16-2496534-CCTT-C
• MyVariant Identifiers: chr16:g.2546536_2546538del (hg19) ; chr16:g.2496535_2496537del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2496537_2496539del , CM000678.2:g.2496537_2496539del	GRCh38
NC_000016.9:g.2546538_2546540del , CM000678.1:g.2546538_2546540del	GRCh37
NC_000016.8:g.2486539_2486541del	NCBI36
NG_028170.1:g.26392_26394del

Transcript Alleles

HGVS	Amino-acid change
ENST00000562105.2:c.389_391del	ENSP00000457896.2:p.Phe130del
ENST00000567020.6:c.389_391del	ENSP00000454408.1:p.Phe130del
ENST00000569874.2:c.389_391del	ENSP00000455005.2:p.Phe130del
ENST00000643767.1:c.389_391del	ENSP00000494145.1:p.Phe130del
ENST00000646147.1:c.389_391del MANE Select	ENSP00000494678.1:p.Phe130del
ENST00000293970.9:c.389_391del	ENSP00000293970.5:p.Phe130del
ENST00000564543.1:c.389_391del	ENSP00000455547.1:p.Phe130del
ENST00000567020.5:c.389_391del	ENSP00000454408.1:p.Phe130del
ENST00000627285.1:c.389_391del	ENSP00000486121.1:p.Phe130del
ENST00000630263.2:c.389_391del	ENSP00000486835.1:p.Phe130del
NM_001199107.1:c.389_391del	NP_001186036.1:p.Phe130del
NM_020705.2:c.389_391del	NP_065756.1:p.Phe130del
XM_017023493.1:c.389_391del	XP_016878982.1:p.Phe130del
XM_017023494.1:c.389_391del	XP_016878983.1:p.Phe130del
XM_017023495.1:c.389_391del	XP_016878984.1:p.Phe130del
XR_001751956.1:n.571_573del
NM_001199107.2:c.389_391del MANE Select	NP_001186036.1:p.Phe130del
NM_020705.3:c.389_391del	NP_065756.1:p.Phe130del