Canonical Allele Identifier: CA498040294

Gene: TTC19

Linked Data

• MyVariant Identifiers: chr17:g.15930822_15930823del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16027509_16027510del , CM000679.2:g.16027509_16027510del	GRCh38
NC_000017.10:g.15930823_15930824del , CM000679.1:g.15930823_15930824del	GRCh37
NC_000017.9:g.15871548_15871549del	NCBI36
NG_029806.1:g.33130_33131del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.1130_1131del MANE Select	ENSP00000261647.5:p.Ser377CysfsTer15
ENST00000261647.9:c.1130_1131del	ENSP00000261647.5:p.Ser377CysfsTer15
ENST00000465567.1:n.1524_1525del
ENST00000470649.1:c.247+807_247+808del	ENSP00000465627.1:n.247+807_247+808del
ENST00000475723.5:c.1314_1315del
ENST00000481107.1:n.1798_1799del
ENST00000497842.6:n.1334_1335del
NM_001271420.1:c.809_810del	NP_001258349.1:p.Ser270CysfsTer15
NM_017775.3:c.1130_1131del	NP_060245.3:p.Ser377CysfsTer15
XM_017024801.2:c.994+807_994+808del	XP_016880290.2:n.994+807_994+808del
XM_017024802.2:c.994+807_994+808del	XP_016880291.2:n.994+807_994+808del
NM_017775.4:c.1130_1131del MANE Select	NP_060245.3:p.Ser377CysfsTer15
NM_001271420.2:c.809_810del	NP_001258349.1:p.Ser270CysfsTer15