Canonical Allele Identifier: CA8407246

Gene: TTC19

Linked Data

• dbSNP Id: rs751449402
• ExAC: 17:15903362 C / CGGGACAG
• gnomAD v2: 17-15903362-C-CGGGACAG
• gnomAD v3: 17-16000048-C-CGGGACAG
• gnomAD v4: 17-16000048-C-CGGGACAG
• MyVariant Identifiers: chr17:g.15903362_15903363insGGGACAG (hg19) ; chr17:g.16000048_16000049insGGGACAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16000051_16000052insACAGGGG , CM000679.2:g.16000051_16000052insACAGGGG	GRCh38
NC_000017.10:g.15903365_15903366insACAGGGG , CM000679.1:g.15903365_15903366insACAGGGG	GRCh37
NC_000017.9:g.15844090_15844091insACAGGGG	NCBI36
NG_029806.1:g.5672_5673insACAGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.184+19_184+20insACAGGGG MANE Select	ENSP00000261647.5:n.184+19_184+20insACAGGGG
ENST00000261647.9:c.184+19_184+20insACAGGGG	ENSP00000261647.5:n.184+19_184+20insACAGGGG
ENST00000466729.5:c.249+19_249+20insACAGGGG
ENST00000470399.1:c.199+19_199+20insACAGGGG	ENSP00000465082.1:n.199+19_199+20insACAGGGG
ENST00000475723.5:c.231+19_231+20insACAGGGG
ENST00000497842.6:n.228_229insACAGGGG
ENST00000583704.1:n.209+19_209+20insACAGGGG
NM_001271420.1:c.-275+19_-275+20insACAGGGG	NP_001258349.1:n.-275+19_-275+20insACAGGGG
NM_017775.3:c.184+19_184+20insACAGGGG	NP_060245.3:n.184+19_184+20insACAGGGG
XM_011523950.1:c.184+19_184+20insACAGGGG	XP_011522252.1:n.184+19_184+20insACAGGGG
XM_017024801.2:c.184+19_184+20insACAGGGG	XP_016880290.2:n.184+19_184+20insACAGGGG
XM_017024802.2:c.184+19_184+20insACAGGGG	XP_016880291.2:n.184+19_184+20insACAGGGG
XM_024450814.1:c.184+19_184+20insACAGGGG	XP_024306582.1:n.184+19_184+20insACAGGGG
NM_017775.4:c.184+19_184+20insACAGGGG MANE Select	NP_060245.3:n.184+19_184+20insACAGGGG
NM_001271420.2:c.-275+19_-275+20insACAGGGG	NP_001258349.1:n.-275+19_-275+20insACAGGGG