Canonical Allele Identifier: CA2576180963

Gene: TTC19

Linked Data

• gnomAD v4: 17-16000043-C-CGGGCCGGGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16000051_16000060dup , CM000679.2:g.16000051_16000060dup	GRCh38
NC_000017.10:g.15903365_15903374dup , CM000679.1:g.15903365_15903374dup	GRCh37
NC_000017.9:g.15844090_15844099dup	NCBI36
NG_029806.1:g.5672_5681dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.184+19_184+28dup MANE Select	ENSP00000261647.5:n.184+19_184+28dup
ENST00000261647.9:c.184+19_184+28dup	ENSP00000261647.5:n.184+19_184+28dup
ENST00000466729.5:c.249+19_249+28dup
ENST00000470399.1:c.199+19_199+28dup	ENSP00000465082.1:n.199+19_199+28dup
ENST00000475723.5:c.231+19_231+28dup
ENST00000497842.6:n.228_237dup
ENST00000583704.1:n.209+19_209+28dup
NM_001271420.1:c.-275+19_-275+28dup	NP_001258349.1:n.-275+19_-275+28dup
NM_017775.3:c.184+19_184+28dup	NP_060245.3:n.184+19_184+28dup
XM_011523950.1:c.184+19_184+28dup	XP_011522252.1:n.184+19_184+28dup
XM_017024801.2:c.184+19_184+28dup	XP_016880290.2:n.184+19_184+28dup
XM_017024802.2:c.184+19_184+28dup	XP_016880291.2:n.184+19_184+28dup
XM_024450814.1:c.184+19_184+28dup	XP_024306582.1:n.184+19_184+28dup
NM_017775.4:c.184+19_184+28dup MANE Select	NP_060245.3:n.184+19_184+28dup
NM_001271420.2:c.-275+19_-275+28dup	NP_001258349.1:n.-275+19_-275+28dup