Canonical Allele Identifier: CA2636259700

Gene: TTC19

Linked Data

• gnomAD v4: 17-16000035-G-GAGGGGCGCGGGCCGGGCGGGGCCGGCCGGGCGGGGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16000053_16000089dup , CM000679.2:g.16000053_16000089dup	GRCh38
NC_000017.10:g.15903367_15903403dup , CM000679.1:g.15903367_15903403dup	GRCh37
NC_000017.9:g.15844092_15844128dup	NCBI36
NG_029806.1:g.5674_5710dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.184+21_185-29dup MANE Select	ENSP00000261647.5:n.184+21_185-29dup
ENST00000261647.9:c.184+21_185-29dup	ENSP00000261647.5:n.184+21_185-29dup
ENST00000466729.5:c.249+21_250-29dup
ENST00000470399.1:c.199+21_200-29dup	ENSP00000465082.1:n.199+21_200-29dup
ENST00000475723.5:c.231+21_232-29dup
ENST00000497842.6:n.230_266dup
ENST00000583704.1:n.209+21_210-29dup
NM_001271420.1:c.-275+21_-274-29dup	NP_001258349.1:n.-275+21_-274-29dup
NM_017775.3:c.184+21_185-29dup	NP_060245.3:n.184+21_185-29dup
XM_011523950.1:c.184+21_185-29dup	XP_011522252.1:n.184+21_185-29dup
XM_017024801.2:c.184+21_185-29dup	XP_016880290.2:n.184+21_185-29dup
XM_017024802.2:c.184+21_185-29dup	XP_016880291.2:n.184+21_185-29dup
XM_024450814.1:c.184+21_185-29dup	XP_024306582.1:n.184+21_185-29dup
NM_017775.4:c.184+21_185-29dup MANE Select	NP_060245.3:n.184+21_185-29dup
NM_001271420.2:c.-275+21_-274-29dup	NP_001258349.1:n.-275+21_-274-29dup