Canonical Allele Identifier: CA2499223459

Gene: TBC1D24

Linked Data

• ClinVar Variation Id: 1072207
• ClinVar RCV Id: RCV001384860
• dbSNP Id: rs2141872348
• gnomAD v4: 16-2496861-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2496863del , CM000678.2:g.2496863del	GRCh38
NC_000016.9:g.2546864del , CM000678.1:g.2546864del	GRCh37
NC_000016.8:g.2486865del	NCBI36
NG_028170.1:g.26718del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000562105.2:c.715del	ENSP00000457896.2:p.Val239CysfsTer16
ENST00000567020.6:c.715del	ENSP00000454408.1:p.Val239CysfsTer16
ENST00000569874.2:c.715del	ENSP00000455005.2:p.Val239CysfsTer16
ENST00000643767.1:c.715del	ENSP00000494145.1:p.Val239CysfsTer16
ENST00000646147.1:c.715del MANE Select	ENSP00000494678.1:p.Val239CysfsTer16
ENST00000293970.9:c.715del	ENSP00000293970.5:p.Val239CysfsTer16
ENST00000564543.1:c.715del	ENSP00000455547.1:p.Val239CysfsTer16
ENST00000567020.5:c.715del	ENSP00000454408.1:p.Val239CysfsTer16
ENST00000627285.1:c.715del	ENSP00000486121.1:p.Val239CysfsTer16
ENST00000630263.2:c.715del	ENSP00000486835.1:p.Val239CysfsTer16
NM_001199107.1:c.715del	NP_001186036.1:p.Val239CysfsTer16
NM_020705.2:c.715del	NP_065756.1:p.Val239CysfsTer16
XM_017023493.1:c.715del	XP_016878982.1:p.Val239CysfsTer16
XM_017023494.1:c.715del	XP_016878983.1:p.Val239CysfsTer16
XM_017023495.1:c.715del	XP_016878984.1:p.Val239CysfsTer16
XR_001751956.1:n.897del
NM_001199107.2:c.715del MANE Select	NP_001186036.1:p.Val239CysfsTer16
NM_020705.3:c.715del	NP_065756.1:p.Val239CysfsTer16