Canonical Allele Identifier: CA2259200883

Gene: TCAP

Linked Data

• dbSNP Id: rs2057253217
• gnomAD v4: 17-39666052-C-CGGTGCCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39666057_39666058insCCTGGTGC , CM000679.2:g.39666057_39666058insCCTGGTGC	GRCh38
NC_000017.10:g.37822310_37822311insCCTGGTGC , CM000679.1:g.37822310_37822311insCCTGGTGC	GRCh37
NC_000017.9:g.35075836_35075837insCCTGGTGC	NCBI36
NG_008892.1:g.5712_5713insCCTGGTGC , LRG_210:g.5712_5713insCCTGGTGC
NG_042278.1:g.3077_3078insCCTGGTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309889.3:c.452_453insCCTGGTGC MANE Select	ENSP00000312624.2:p.Arg153ValfsTer?
ENST00000309889.2:c.452_453insCCTGGTGC	ENSP00000312624.2:p.Arg153ValfsTer?
ENST00000578283.1:c.380_381insCCTGGTGC	ENSP00000462787.1:p.Arg129ValfsTer?
NM_003673.3:c.452_453insCCTGGTGC , LRG_210t1:c.452_453insCCTGGTGC	NP_003664.1:p.Arg153ValfsTer?
NM_003673.4:c.452_453insCCTGGTGC MANE Select	NP_003664.1:p.Arg153ValfsTer?