Canonical Allele Identifier: CA8532818
Gene: TCAP HGNC NCBI

Linked Data

ClinVar Variation Id: 448649
ClinVar RCV Id: RCV000517582 RCV000800083
dbSNP Id: rs778568339
ExAC: 17:37821635 G / GCGAGGTGT
gnomAD v2: 17-37821635-G-GCGAGGTGT
gnomAD v3: 17-39665382-G-GCGAGGTGT
gnomAD v4: 17-39665382-G-GCGAGGTGT
MyVariant Identifiers: chr17:g.37821638_37821645dup (hg19) chr17:g.37821635_37821636insCGAGGTGT (hg19) chr17:g.39665385_39665392dup (hg38) chr17:g.39665382_39665383insCGAGGTGT (hg38)
PubMed: PMID:25055047 PMID:27066551
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39665385_39665392dup , CM000679.2:g.39665385_39665392dup GRCh38
NC_000017.10:g.37821638_37821645dup , CM000679.1:g.37821638_37821645dup GRCh37
NC_000017.9:g.35075164_35075171dup NCBI36
NG_008892.1:g.5040_5047dup , LRG_210:g.5040_5047dup
NG_042278.1:g.2405_2412dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000309889.3:c.26_33dup MANE Select ENSP00000312624.2:p.Glu12ArgfsTer20
ENST00000309889.2:c.26_33dup ENSP00000312624.2:p.Glu12ArgfsTer20
ENST00000578283.1:c.26_33dup ENSP00000462787.1:p.Glu12ArgfsTer20
NM_003673.3:c.26_33dup , LRG_210t1:c.26_33dup NP_003664.1:p.Glu12ArgfsTer20
NM_003673.4:c.26_33dup MANE Select NP_003664.1:p.Glu12ArgfsTer20
Search 100 bp 5'
Search 100 bp 3'