Canonical Allele Identifier: CA2830558162

Gene: TTC19

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16027684_16027685insCCTTTAAAATACAAAAATGGCA , CM000679.2:g.16027684_16027685insCCTTTAAAATACAAAAATGGCA	GRCh38
NC_000017.10:g.15930998_15930999insCCTTTAAAATACAAAAATGGCA , CM000679.1:g.15930998_15930999insCCTTTAAAATACAAAAATGGCA	GRCh37
NC_000017.9:g.15871723_15871724insCCTTTAAAATACAAAAATGGCA	NCBI36
NG_029806.1:g.33305_33306insCCTTTAAAATACAAAAATGGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*162_*163insCCTTTAAAATACAAAAATGGCA MANE Select	ENSP00000261647.5:n.*162_*163insCCTTTAAAATACAAAAATGGCA
ENST00000261647.9:c.*162_*163insCCTTTAAAATACAAAAATGGCA	ENSP00000261647.5:n.*162_*163insCCTTTAAAATACAAAAATGGCA
ENST00000465567.1:n.1699_1700insCCTTTAAAATACAAAAATGGCA
ENST00000470649.1:c.247+982_247+983insCCTTTAAAATACAAAAATGGCA	ENSP00000465627.1:n.247+982_247+983insCCTTTAAAATACAAAAATGGCA
ENST00000475723.5:c.1489_1490insCCTTTAAAATACAAAAATGGCA
ENST00000481107.1:n.1973_1974insCCTTTAAAATACAAAAATGGCA
NM_001271420.1:c.*162_*163insCCTTTAAAATACAAAAATGGCA	NP_001258349.1:n.*162_*163insCCTTTAAAATACAAAAATGGCA
NM_017775.3:c.*162_*163insCCTTTAAAATACAAAAATGGCA	NP_060245.3:n.*162_*163insCCTTTAAAATACAAAAATGGCA
XM_017024801.2:c.994+982_994+983insCCTTTAAAATACAAAAATGGCA	XP_016880290.2:n.994+982_994+983insCCTTTAAAATACAAAAATGGCA
XM_017024802.2:c.994+982_994+983insCCTTTAAAATACAAAAATGGCA	XP_016880291.2:n.994+982_994+983insCCTTTAAAATACAAAAATGGCA
NM_017775.4:c.*162_*163insCCTTTAAAATACAAAAATGGCA MANE Select	NP_060245.3:n.*162_*163insCCTTTAAAATACAAAAATGGCA
NM_001271420.2:c.*162_*163insCCTTTAAAATACAAAAATGGCA	NP_001258349.1:n.*162_*163insCCTTTAAAATACAAAAATGGCA