Canonical Allele Identifier: CA2733560104

Gene: TCAP

Linked Data

• dbSNP Id: rs2145074832

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39666059_39666060insCC , CM000679.2:g.39666059_39666060insCC	GRCh38
NC_000017.10:g.37822312_37822313insCC , CM000679.1:g.37822312_37822313insCC	GRCh37
NC_000017.9:g.35075838_35075839insCC	NCBI36
NG_008892.1:g.5714_5715insCC , LRG_210:g.5714_5715insCC
NG_042278.1:g.3079_3080insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309889.3:c.454_455insCC MANE Select	ENSP00000312624.2:p.Leu152ProfsTer?
ENST00000309889.2:c.454_455insCC	ENSP00000312624.2:p.Leu152ProfsTer?
ENST00000578283.1:c.382_383insCC	ENSP00000462787.1:p.Leu128ProfsTer?
NM_003673.3:c.454_455insCC , LRG_210t1:c.454_455insCC	NP_003664.1:p.Leu152ProfsTer?
NM_003673.4:c.454_455insCC MANE Select	NP_003664.1:p.Leu152ProfsTer?