Canonical Allele Identifier: CA2576253852

Gene: TCAP

Linked Data

• ClinVar Variation Id: 2647720
• ClinVar RCV Id: RCV003419718

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39666015_39666016del , CM000679.2:g.39666015_39666016del	GRCh38
NC_000017.10:g.37822268_37822269del , CM000679.1:g.37822268_37822269del	GRCh37
NC_000017.9:g.35075794_35075795del	NCBI36
NG_008892.1:g.5670_5671del , LRG_210:g.5670_5671del
NG_042278.1:g.3035_3036del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309889.3:c.410_411del MANE Select	ENSP00000312624.2:p.Thr137LysfsTer?
ENST00000309889.2:c.410_411del	ENSP00000312624.2:p.Thr137LysfsTer?
ENST00000578283.1:c.338_339del	ENSP00000462787.1:p.Thr113LysfsTer?
NM_003673.3:c.410_411del , LRG_210t1:c.410_411del	NP_003664.1:p.Thr137LysfsTer?
NM_003673.4:c.410_411del MANE Select	NP_003664.1:p.Thr137LysfsTer?