Canonical Allele Identifier: CA278947
Gene: TCAP HGNC NCBI

Linked Data

ClinVar Variation Id: 217014
ClinVar RCV Id: RCV000196697
dbSNP Id: rs863224933
MyVariant Identifiers: chr17:g.37821636_37821637insGAGGTGT (hg19) chr17:g.39665383_39665384insGAGGTGT (hg38)
PubMed: PMID:25326637
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39665384_39665390dup , CM000679.2:g.39665384_39665390dup GRCh38
NC_000017.10:g.37821637_37821643dup , CM000679.1:g.37821637_37821643dup GRCh37
NC_000017.9:g.35075163_35075169dup NCBI36
NG_008892.1:g.5039_5045dup , LRG_210:g.5039_5045dup
NG_042278.1:g.2404_2410dup

Transcript Alleles

HGVS Amino-acid change
ENST00000309889.3:c.25_31dup MANE Select ENSP00000312624.2:p.Ser11Ter
ENST00000309889.2:c.25_31dup ENSP00000312624.2:p.Ser11Ter
ENST00000578283.1:c.25_31dup ENSP00000462787.1:p.Ser11Ter
NM_003673.3:c.25_31dup , LRG_210t1:c.25_31dup NP_003664.1:p.Ser11Ter
NM_003673.4:c.25_31dup MANE Select NP_003664.1:p.Ser11Ter
Search 100 bp 5'
Search 100 bp 3'