Canonical Allele Identifier: CA2249871894

Gene: TTC19

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028816_16028817delinsCT , CM000679.2:g.16028816_16028817delinsCT	GRCh38
NC_000017.10:g.15932130_15932131delinsCT , CM000679.1:g.15932130_15932131delinsCT	GRCh37
NC_000017.9:g.15872855_15872856delinsCT	NCBI36
NG_029806.1:g.34437_34438delinsCT
NG_047111.1:g.192930_192931delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*1294_*1295delinsCT MANE Select	ENSP00000261647.5:n.*1294_*1295delinsCT
ENST00000261647.9:c.*1294_*1295delinsCT	ENSP00000261647.5:n.*1294_*1295delinsCT
ENST00000470649.1:c.247+2114_247+2115delinsCT	ENSP00000465627.1:n.247+2114_247+2115delinsCT
NM_001271420.1:c.*1294_*1295delinsCT	NP_001258349.1:n.*1294_*1295delinsCT
NM_017775.3:c.*1294_*1295delinsCT	NP_060245.3:n.*1294_*1295delinsCT
XM_017024801.2:c.994+2114_994+2115delinsCT	XP_016880290.2:n.994+2114_994+2115delinsCT
XM_017024802.2:c.994+2114_994+2115delinsCT	XP_016880291.2:n.994+2114_994+2115delinsCT
NM_017775.4:c.*1294_*1295delinsCT MANE Select	NP_060245.3:n.*1294_*1295delinsCT
NM_001271420.2:c.*1294_*1295delinsCT	NP_001258349.1:n.*1294_*1295delinsCT