Canonical Allele Identifier: CA2259200824

Gene: TCAP

Linked Data

• ClinVar Variation Id: 1434453
• ClinVar RCV Id: RCV001955008 ; RCV002324361
• dbSNP Id: rs2057251924
• gnomAD v4: 17-39665930-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39665935del , CM000679.2:g.39665935del	GRCh38
NC_000017.10:g.37822188del , CM000679.1:g.37822188del	GRCh37
NC_000017.9:g.35075714del	NCBI36
NG_008892.1:g.5590del , LRG_210:g.5590del
NG_042278.1:g.2955del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309889.3:c.330del MANE Select	ENSP00000312624.2:p.Ile111SerfsTer?
ENST00000309889.2:c.330del	ENSP00000312624.2:p.Ile111SerfsTer?
ENST00000578283.1:c.258del	ENSP00000462787.1:p.Ile87SerfsTer?
NM_003673.3:c.330del , LRG_210t1:c.330del	NP_003664.1:p.Ile111SerfsTer?
NM_003673.4:c.330del MANE Select	NP_003664.1:p.Ile111SerfsTer?