Canonical Allele Identifier: CA2631209326

Gene: TBC1D24

Linked Data

• gnomAD v4: 16-2496374-GACATCGTGGGCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2496376_2496387del , CM000678.2:g.2496376_2496387del	GRCh38
NC_000016.9:g.2546377_2546388del , CM000678.1:g.2546377_2546388del	GRCh37
NC_000016.8:g.2486378_2486389del	NCBI36
NG_028170.1:g.26231_26242del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000562105.2:c.228_239del	ENSP00000457896.2:p.Asp76_Lys80delinsGlu
ENST00000567020.6:c.228_239del	ENSP00000454408.1:p.Asp76_Lys80delinsGlu
ENST00000569874.2:c.228_239del	ENSP00000455005.2:p.Asp76_Lys80delinsGlu
ENST00000643767.1:c.228_239del	ENSP00000494145.1:p.Asp76_Lys80delinsGlu
ENST00000646147.1:c.228_239del MANE Select	ENSP00000494678.1:p.Asp76_Lys80delinsGlu
ENST00000293970.9:c.228_239del	ENSP00000293970.5:p.Asp76_Lys80delinsGlu
ENST00000564543.1:c.228_239del	ENSP00000455547.1:p.Asp76_Lys80delinsGlu
ENST00000567020.5:c.228_239del	ENSP00000454408.1:p.Asp76_Lys80delinsGlu
ENST00000627285.1:c.228_239del	ENSP00000486121.1:p.Asp76_Lys80delinsGlu
ENST00000630263.2:c.228_239del	ENSP00000486835.1:p.Asp76_Lys80delinsGlu
NM_001199107.1:c.228_239del	NP_001186036.1:p.Asp76_Lys80delinsGlu
NM_020705.2:c.228_239del	NP_065756.1:p.Asp76_Lys80delinsGlu
XM_017023493.1:c.228_239del	XP_016878982.1:p.Asp76_Lys80delinsGlu
XM_017023494.1:c.228_239del	XP_016878983.1:p.Asp76_Lys80delinsGlu
XM_017023495.1:c.228_239del	XP_016878984.1:p.Asp76_Lys80delinsGlu
XR_001751956.1:n.410_421del
NM_001199107.2:c.228_239del MANE Select	NP_001186036.1:p.Asp76_Lys80delinsGlu
NM_020705.3:c.228_239del	NP_065756.1:p.Asp76_Lys80delinsGlu