Canonical Allele Identifier: CA134913

Gene: TCAP

Linked Data

• ClinVar Variation Id: 44702
• ClinVar RCV Id: RCV000037788 ; RCV002054678
• dbSNP Id: rs397516860
• ExAC: 17:37821950 G / GC
• gnomAD v2: 17-37821950-G-GC
• gnomAD v3: 17-39665697-G-GC
• gnomAD v4: 17-39665697-G-GC
• MyVariant Identifiers: chr17:g.37821951_37821952insC (hg19) ; chr17:g.37821950_37821951insC (hg19) ; chr17:g.39665697_39665698insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39665701dup , CM000679.2:g.39665701dup	GRCh38
NC_000017.10:g.37821954dup , CM000679.1:g.37821954dup	GRCh37
NC_000017.9:g.35075480dup	NCBI36
NG_008892.1:g.5356dup , LRG_210:g.5356dup
NG_042278.1:g.2721dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309889.3:c.111-15dup MANE Select	ENSP00000312624.2:n.111-15dup
ENST00000309889.2:c.111-15dup	ENSP00000312624.2:n.111-15dup
ENST00000578283.1:c.111-15dup	ENSP00000462787.1:n.111-15dup
NM_003673.3:c.111-15dup , LRG_210t1:c.111-15dup	NP_003664.1:n.111-15dup
NM_003673.4:c.111-15dup MANE Select	NP_003664.1:n.111-15dup