Canonical Allele Identifier: CA2249872144

Gene: TTC19

Linked Data

• dbSNP Id: rs1971704671

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028835_16028836insCAAAAAA , CM000679.2:g.16028835_16028836insCAAAAAA	GRCh38
NC_000017.10:g.15932149_15932150insCAAAAAA , CM000679.1:g.15932149_15932150insCAAAAAA	GRCh37
NC_000017.9:g.15872874_15872875insCAAAAAA	NCBI36
NG_029806.1:g.34456_34457insCAAAAAA
NG_047111.1:g.192917_192918insGTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*1313_*1314insCAAAAAA MANE Select	ENSP00000261647.5:n.*1313_*1314insCAAAAAA
ENST00000261647.9:c.*1313_*1314insCAAAAAA	ENSP00000261647.5:n.*1313_*1314insCAAAAAA
ENST00000470649.1:c.247+2133_247+2134insCAAAAAA	ENSP00000465627.1:n.247+2133_247+2134insCAAAAAA
NM_001271420.1:c.*1313_*1314insCAAAAAA	NP_001258349.1:n.*1313_*1314insCAAAAAA
NM_017775.3:c.*1313_*1314insCAAAAAA	NP_060245.3:n.*1313_*1314insCAAAAAA
XM_017024801.2:c.994+2133_994+2134insCAAAAAA	XP_016880290.2:n.994+2133_994+2134insCAAAAAA
XM_017024802.2:c.994+2133_994+2134insCAAAAAA	XP_016880291.2:n.994+2133_994+2134insCAAAAAA
NM_017775.4:c.*1313_*1314insCAAAAAA MANE Select	NP_060245.3:n.*1313_*1314insCAAAAAA
NM_001271420.2:c.*1313_*1314insCAAAAAA	NP_001258349.1:n.*1313_*1314insCAAAAAA