Canonical Allele Identifier: CA2249869840

Gene: TTC19

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16027481_16027502delinsTCAAAGAAAAGTAGACCTTTGA , CM000679.2:g.16027481_16027502delinsTCAAAGAAAAGTAGACCTTTGA	GRCh38
NC_000017.10:g.15930795_15930816delinsTCAAAGAAAAGTAGACCTTTGA , CM000679.1:g.15930795_15930816delinsTCAAAGAAAAGTAGACCTTTGA	GRCh37
NC_000017.9:g.15871520_15871541delinsTCAAAGAAAAGTAGACCTTTGA	NCBI36
NG_029806.1:g.33102_33123delinsTCAAAGAAAAGTAGACCTTTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.1102_1123delinsTCAAAGAAAAGTAGACCTTTGA MANE Select	ENSP00000261647.5:p.Ser368=
ENST00000261647.9:c.1102_1123delinsTCAAAGAAAAGTAGACCTTTGA	ENSP00000261647.5:p.Ser368=
ENST00000465567.1:n.1496_1517delinsTCAAAGAAAAGTAGACCTTTGA
ENST00000470649.1:c.247+779_247+800delinsTCAAAGAAAAGTAGACCTTTGA	ENSP00000465627.1:n.247+779_247+800delinsTCAAAGAAAAGTAGACCTTT...
ENST00000475723.5:c.1286_1307delinsTCAAAGAAAAGTAGACCTTTGA
ENST00000481107.1:n.1770_1791delinsTCAAAGAAAAGTAGACCTTTGA
ENST00000497842.6:n.1306_1327delinsTCAAAGAAAAGTAGACCTTTGA
NM_001271420.1:c.781_802delinsTCAAAGAAAAGTAGACCTTTGA	NP_001258349.1:p.Ser261=
NM_017775.3:c.1102_1123delinsTCAAAGAAAAGTAGACCTTTGA	NP_060245.3:p.Ser368=
XM_017024801.2:c.994+779_994+800delinsTCAAAGAAAAGTAGACCTTTGA	XP_016880290.2:n.994+779_994+800delinsTCAAAGAAAAGTAGACCTTTGA
XM_017024802.2:c.994+779_994+800delinsTCAAAGAAAAGTAGACCTTTGA	XP_016880291.2:n.994+779_994+800delinsTCAAAGAAAAGTAGACCTTTGA
NM_017775.4:c.1102_1123delinsTCAAAGAAAAGTAGACCTTTGA MANE Select	NP_060245.3:p.Ser368=
NM_001271420.2:c.781_802delinsTCAAAGAAAAGTAGACCTTTGA	NP_001258349.1:p.Ser261=