Canonical Allele Identifier: CA134920

Gene: TCAP

Linked Data

• ClinVar Variation Id: 44707
• ClinVar RCV Id: RCV000037794 ; RCV000172590 ; RCV000584787 ; RCV000617480 ; RCV000989845 ; RCV001081397 ; RCV001170354 ; RCV003318344
• dbSNP Id: rs397516862
• ExAC: 17:37821644 CGGA / C
• gnomAD v2: 17-37821644-CGGA-C
• gnomAD v3: 17-39665391-CGGA-C
• gnomAD v4: 17-39665391-CGGA-C
• COSMIC: COSM1684501 ; COSM4732594
• MyVariant Identifiers: chr17:g.37821649_37821651del (hg19) ; chr17:g.37821645_37821647del (hg19) ; chr17:g.39665396_39665398del (hg38) ; chr17:g.39665393_39665395del (hg38) ; chr17:g.39665392_39665394del (hg38)
• PubMed: PMID:16352453 ; PMID:16490376 ; PMID:16650785 ; PMID:19035361 ; PMID:21799151 ; PMID:23396983 ; PMID:23785128 ; PMID:23861362 ; PMID:23891399 ; PMID:24037902 ; PMID:24503780 ; PMID:26060040 ; PMID:26671970

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39665396_39665398del , CM000679.2:g.39665396_39665398del	GRCh38
NC_000017.10:g.37821649_37821651del , CM000679.1:g.37821649_37821651del	GRCh37
NC_000017.9:g.35075175_35075177del	NCBI36
NG_008892.1:g.5051_5053del , LRG_210:g.5051_5053del
NG_042278.1:g.2416_2418del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309889.3:c.37_39del MANE Select	ENSP00000312624.2:p.Glu13del
ENST00000309889.2:c.37_39del	ENSP00000312624.2:p.Glu13del
ENST00000578283.1:c.37_39del	ENSP00000462787.1:p.Glu13del
NM_003673.3:c.37_39del , LRG_210t1:c.37_39del	NP_003664.1:p.Glu13del
NM_003673.4:c.37_39del MANE Select	NP_003664.1:p.Glu13del