Canonical Allele Identifier: CA2636259697
Gene: TTC19 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16000031del , CM000679.2:g.16000031del GRCh38
NC_000017.10:g.15903345del , CM000679.1:g.15903345del GRCh37
NC_000017.9:g.15844070del NCBI36
NG_029806.1:g.5652del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261647.10:c.183del MANE Select ENSP00000261647.5:p.Ala62ArgfsTer?
ENST00000261647.9:c.183del ENSP00000261647.5:p.Ala62ArgfsTer?
ENST00000466729.5:c.248del
ENST00000470399.1:c.198del ENSP00000465082.1:p.Ala67ArgfsTer?
ENST00000475723.5:c.230del
ENST00000497842.6:n.208del
ENST00000583704.1:n.208del
NM_001271420.1:c.-276del NP_001258349.1:n.-276del
NM_017775.3:c.183del NP_060245.3:p.Ala62ArgfsTer?
XM_011523950.1:c.183del XP_011522252.1:p.Ala62ArgfsTer?
XM_017024801.2:c.183del XP_016880290.2:p.Ala62ArgfsTer?
XM_017024802.2:c.183del XP_016880291.2:p.Ala62ArgfsTer?
XM_024450814.1:c.183del XP_024306582.1:p.Ala62ArgfsTer?
NM_017775.4:c.183del MANE Select NP_060245.3:p.Ala62ArgfsTer?
NM_001271420.2:c.-276del NP_001258349.1:n.-276del