Canonical Allele Identifier: CA658656575
Gene: TCAP HGNC NCBI

Linked Data

ClinVar Variation Id: 446463
ClinVar RCV Id: RCV000515732 RCV001814176 RCV004003588
dbSNP Id: rs1555606976
MyVariant Identifiers: chr17:g.37821702_37821703del (hg19) chr17:g.39665449_39665450del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39665449_39665450del , CM000679.2:g.39665449_39665450del GRCh38
NC_000017.10:g.37821702_37821703del , CM000679.1:g.37821702_37821703del GRCh37
NC_000017.9:g.35075228_35075229del NCBI36
NG_008892.1:g.5104_5105del , LRG_210:g.5104_5105del
NG_042278.1:g.2469_2470del

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.90_91del MANE Select ENSP00000312624.2:p.Ser31HisfsTer11
ENST00000309889.2:c.90_91del ENSP00000312624.2:p.Ser31HisfsTer11
ENST00000578283.1:c.90_91del ENSP00000462787.1:p.Ser31HisfsTer11
NM_003673.3:c.90_91del , LRG_210t1:c.90_91del NP_003664.1:p.Ser31HisfsTer11
NM_003673.4:c.90_91del MANE Select NP_003664.1:p.Ser31HisfsTer11
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