Canonical Allele Identifier: CA2636264139

Gene: TTC19

Linked Data

• gnomAD v4: 17-16028829-A-AAAAAAAAAC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028837_16028838insCAAAAAAAA , CM000679.2:g.16028837_16028838insCAAAAAAAA	GRCh38
NC_000017.10:g.15932151_15932152insCAAAAAAAA , CM000679.1:g.15932151_15932152insCAAAAAAAA	GRCh37
NC_000017.9:g.15872876_15872877insCAAAAAAAA	NCBI36
NG_029806.1:g.34458_34459insCAAAAAAAA
NG_047111.1:g.192917_192918insGTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*1315_*1316insCAAAAAAAA MANE Select	ENSP00000261647.5:n.*1315_*1316insCAAAAAAAA
ENST00000261647.9:c.*1315_*1316insCAAAAAAAA	ENSP00000261647.5:n.*1315_*1316insCAAAAAAAA
ENST00000470649.1:c.247+2135_247+2136insCAAAAAAAA	ENSP00000465627.1:n.247+2135_247+2136insCAAAAAAAA
NM_001271420.1:c.*1315_*1316insCAAAAAAAA	NP_001258349.1:n.*1315_*1316insCAAAAAAAA
NM_017775.3:c.*1315_*1316insCAAAAAAAA	NP_060245.3:n.*1315_*1316insCAAAAAAAA
XM_017024801.2:c.994+2135_994+2136insCAAAAAAAA	XP_016880290.2:n.994+2135_994+2136insCAAAAAAAA
XM_017024802.2:c.994+2135_994+2136insCAAAAAAAA	XP_016880291.2:n.994+2135_994+2136insCAAAAAAAA
NM_017775.4:c.*1315_*1316insCAAAAAAAA MANE Select	NP_060245.3:n.*1315_*1316insCAAAAAAAA
NM_001271420.2:c.*1315_*1316insCAAAAAAAA	NP_001258349.1:n.*1315_*1316insCAAAAAAAA