Canonical Allele Identifier: CA2249871305

Gene: TTC19

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028538_16028542delinsAGAGC , CM000679.2:g.16028538_16028542delinsAGAGC	GRCh38
NC_000017.10:g.15931852_15931856delinsAGAGC , CM000679.1:g.15931852_15931856delinsAGAGC	GRCh37
NC_000017.9:g.15872577_15872581delinsAGAGC	NCBI36
NG_029806.1:g.34159_34163delinsAGAGC
NG_047111.1:g.193205_193209delinsGCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*1016_*1020delinsAGAGC MANE Select	ENSP00000261647.5:n.*1016_*1020delinsAGAGC
ENST00000261647.9:c.*1016_*1020delinsAGAGC	ENSP00000261647.5:n.*1016_*1020delinsAGAGC
ENST00000465567.1:n.2553_2557delinsAGAGC
ENST00000470649.1:c.247+1836_247+1840delinsAGAGC	ENSP00000465627.1:n.247+1836_247+1840delinsAGAGC
ENST00000475723.5:c.2343_2347delinsAGAGC
ENST00000481107.1:n.2827_2831delinsAGAGC
NM_001271420.1:c.*1016_*1020delinsAGAGC	NP_001258349.1:n.*1016_*1020delinsAGAGC
NM_017775.3:c.*1016_*1020delinsAGAGC	NP_060245.3:n.*1016_*1020delinsAGAGC
XM_017024801.2:c.994+1836_994+1840delinsAGAGC	XP_016880290.2:n.994+1836_994+1840delinsAGAGC
XM_017024802.2:c.994+1836_994+1840delinsAGAGC	XP_016880291.2:n.994+1836_994+1840delinsAGAGC
NM_017775.4:c.*1016_*1020delinsAGAGC MANE Select	NP_060245.3:n.*1016_*1020delinsAGAGC
NM_001271420.2:c.*1016_*1020delinsAGAGC	NP_001258349.1:n.*1016_*1020delinsAGAGC