Canonical Allele Identifier: CA7843957

Gene: TBC1D24

Linked Data

• ClinVar Variation Id: 418692
• ClinVar RCV Id: RCV000478982 ; RCV000808206 ; RCV001044367 ; RCV002311804 ; RCV003984840
• dbSNP Id: rs761918906
• ExAC: 16:2546377 CATCGTGGGCAAG / C
• gnomAD v2: 16-2546377-CATCGTGGGCAAG-C
• gnomAD v3: 16-2496376-CATCGTGGGCAAG-C
• gnomAD v4: 16-2496376-CATCGTGGGCAAG-C
• MyVariant Identifiers: chr16:g.2546390_2546401del (hg19) ; chr16:g.2546378_2546389del (hg19) ; chr16:g.2496389_2496400del (hg38) ; chr16:g.2496377_2496388del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2496389_2496400del , CM000678.2:g.2496389_2496400del	GRCh38
NC_000016.9:g.2546390_2546401del , CM000678.1:g.2546390_2546401del	GRCh37
NC_000016.8:g.2486391_2486402del	NCBI36
NG_028170.1:g.26244_26255del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000562105.2:c.241_252del	ENSP00000457896.2:p.Ile81_Lys84del
ENST00000567020.6:c.241_252del	ENSP00000454408.1:p.Ile81_Lys84del
ENST00000569874.2:c.241_252del	ENSP00000455005.2:p.Ile81_Lys84del
ENST00000643767.1:c.241_252del	ENSP00000494145.1:p.Ile81_Lys84del
ENST00000646147.1:c.241_252del MANE Select	ENSP00000494678.1:p.Ile81_Lys84del
ENST00000293970.9:c.241_252del	ENSP00000293970.5:p.Ile81_Lys84del
ENST00000564543.1:c.241_252del	ENSP00000455547.1:p.Ile81_Lys84del
ENST00000567020.5:c.241_252del	ENSP00000454408.1:p.Ile81_Lys84del
ENST00000627285.1:c.241_252del	ENSP00000486121.1:p.Ile81_Lys84del
ENST00000630263.2:c.241_252del	ENSP00000486835.1:p.Ile81_Lys84del
NM_001199107.1:c.241_252del	NP_001186036.1:p.Ile81_Lys84del
NM_020705.2:c.241_252del	NP_065756.1:p.Ile81_Lys84del
XM_017023493.1:c.241_252del	XP_016878982.1:p.Ile81_Lys84del
XM_017023494.1:c.241_252del	XP_016878983.1:p.Ile81_Lys84del
XM_017023495.1:c.241_252del	XP_016878984.1:p.Ile81_Lys84del
XR_001751956.1:n.423_434del
NM_001199107.2:c.241_252del MANE Select	NP_001186036.1:p.Ile81_Lys84del
NM_020705.3:c.241_252del	NP_065756.1:p.Ile81_Lys84del