Canonical Allele Identifier: CA2249870806

Gene: TTC19

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028229_16028236delinsTCTGAACA , CM000679.2:g.16028229_16028236delinsTCTGAACA	GRCh38
NC_000017.10:g.15931543_15931550delinsTCTGAACA , CM000679.1:g.15931543_15931550delinsTCTGAACA	GRCh37
NC_000017.9:g.15872268_15872275delinsTCTGAACA	NCBI36
NG_029806.1:g.33850_33857delinsTCTGAACA
NG_047111.1:g.193511_193518delinsTGTTCAGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000261647.10:c.*707_*714delinsTCTGAACA MANE Select	ENSP00000261647.5:n.*707_*714delinsTCTGAACA
ENST00000261647.9:c.*707_*714delinsTCTGAACA	ENSP00000261647.5:n.*707_*714delinsTCTGAACA
ENST00000465567.1:n.2244_2251delinsTCTGAACA
ENST00000470649.1:c.247+1527_247+1534delinsTCTGAACA	ENSP00000465627.1:n.247+1527_247+1534delinsTCTGAACA
ENST00000475723.5:c.2034_2041delinsTCTGAACA
ENST00000481107.1:n.2518_2525delinsTCTGAACA
NM_001271420.1:c.*707_*714delinsTCTGAACA	NP_001258349.1:n.*707_*714delinsTCTGAACA
NM_017775.3:c.*707_*714delinsTCTGAACA	NP_060245.3:n.*707_*714delinsTCTGAACA
XM_017024801.2:c.994+1527_994+1534delinsTCTGAACA	XP_016880290.2:n.994+1527_994+1534delinsTCTGAACA
XM_017024802.2:c.994+1527_994+1534delinsTCTGAACA	XP_016880291.2:n.994+1527_994+1534delinsTCTGAACA
NM_017775.4:c.*707_*714delinsTCTGAACA MANE Select	NP_060245.3:n.*707_*714delinsTCTGAACA
NM_001271420.2:c.*707_*714delinsTCTGAACA	NP_001258349.1:n.*707_*714delinsTCTGAACA