Canonical Allele Identifier: CA2564081272

Gene: TTC19

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028810_16028811insAAATGCAAAGATTACTGGGATACATACAACAATATTGTATGTATCCCAGTAATCTTTG , CM000679.2:g.16028810_16028811insAAATGCAAAGATTACTGGGATACATACAACAATATTGTATGTATCCCAGTAATCTTTG	GRCh38
NC_000017.10:g.15932124_15932125insAAATGCAAAGATTACTGGGATACATACAACAATATTGTATGTATCCCAGTAATCTTTG , CM000679.1:g.15932124_15932125insAAATGCAAAGATTACTGGGATACATACAACAATATTGTATGTATCCCAGTAATCTTTG	GRCh37
NC_000017.9:g.15872849_15872850insAAATGCAAAGATTACTGGGATACATACAACAATATTGTATGTATCCCAGTAATCTTTG	NCBI36
NG_029806.1:g.34431_34432insAAATGCAAAGATTACTGGGATACATACAACAATATTGTATGTATCCCAGTAATCTTTG
NG_047111.1:g.192969_192970insATGTATCCCAGTAATCTTTGCATTTCAAAGATTACTGGGATACATACAATATTGTTGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000261647.10:c.*1288_*1289insAAATGCAAAGATTACTGGGATACATACAACAATATTGTATGTATCCCAGTAATCTTTG MANE Select	ENSP00000261647.5:n.*1288_*1289insAAATGCAAAGATTACTGGGATACATAC...
ENST00000261647.9:c.*1288_*1289insAAATGCAAAGATTACTGGGATACATACAACAATATTGTATGTATCCCAGTAATCTTTG	ENSP00000261647.5:n.*1288_*1289insAAATGCAAAGATTACTGGGATACATAC...
ENST00000470649.1:c.247+2108_247+2109insAAATGCAAAGATTACTGGGATACATACAACAATATTGTATGTATCCCAGTAATCTTTG	ENSP00000465627.1:n.247+2108_247+2109insAAATGCAAAGATTACTGGGAT...
NM_001271420.1:c.*1288_*1289insAAATGCAAAGATTACTGGGATACATACAACAATATTGTATGTATCCCAGTAATCTTTG	NP_001258349.1:n.*1288_*1289insAAATGCAAAGATTACTGGGATACATACAAC...
NM_017775.3:c.*1288_*1289insAAATGCAAAGATTACTGGGATACATACAACAATATTGTATGTATCCCAGTAATCTTTG	NP_060245.3:n.*1288_*1289insAAATGCAAAGATTACTGGGATACATACAACAAT...
XM_017024801.2:c.994+2108_994+2109insAAATGCAAAGATTACTGGGATACATACAACAATATTGTATGTATCCCAGTAATCTTTG	XP_016880290.2:n.994+2108_994+2109insAAATGCAAAGATTACTGGGATACA...
XM_017024802.2:c.994+2108_994+2109insAAATGCAAAGATTACTGGGATACATACAACAATATTGTATGTATCCCAGTAATCTTTG	XP_016880291.2:n.994+2108_994+2109insAAATGCAAAGATTACTGGGATACA...
NM_017775.4:c.*1288_*1289insAAATGCAAAGATTACTGGGATACATACAACAATATTGTATGTATCCCAGTAATCTTTG MANE Select	NP_060245.3:n.*1288_*1289insAAATGCAAAGATTACTGGGATACATACAACAAT...
NM_001271420.2:c.*1288_*1289insAAATGCAAAGATTACTGGGATACATACAACAATATTGTATGTATCCCAGTAATCTTTG	NP_001258349.1:n.*1288_*1289insAAATGCAAAGATTACTGGGATACATACAAC...