Canonical Allele Identifier: CA2580093655
Gene: TCAP HGNC NCBI

Linked Data

ClinVar Variation Id: 2146004
ClinVar RCV Id: RCV003074341 RCV003294436
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39665393_39665407dup , CM000679.2:g.39665393_39665407dup GRCh38
NC_000017.10:g.37821646_37821660dup , CM000679.1:g.37821646_37821660dup GRCh37
NC_000017.9:g.35075172_35075186dup NCBI36
NG_008892.1:g.5048_5062dup , LRG_210:g.5048_5062dup
NG_042278.1:g.2413_2427dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.34_48dup MANE Select ENSP00000312624.2:p.Glu16_Arg17insGluGluAsnCysGlu
ENST00000309889.2:c.34_48dup ENSP00000312624.2:p.Glu16_Arg17insGluGluAsnCysGlu
ENST00000578283.1:c.34_48dup ENSP00000462787.1:p.Glu16_Arg17insGluGluAsnCysGlu
NM_003673.3:c.34_48dup , LRG_210t1:c.34_48dup NP_003664.1:p.Glu16_Arg17insGluGluAsnCysGlu
NM_003673.4:c.34_48dup MANE Select NP_003664.1:p.Glu16_Arg17insGluGluAsnCysGlu
Search 100 bp 5'
Search 100 bp 3'