Canonical Allele Identifier: CA625312128

Gene: TTC19

Linked Data

• dbSNP Id: rs1481670851
• gnomAD v2: 17-15903269-CG-C
• gnomAD v4: 17-15999955-CG-C
• MyVariant Identifiers: chr17:g.15903270del (hg19) ; chr17:g.15999956del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15999959del , CM000679.2:g.15999959del	GRCh38
NC_000017.10:g.15903273del , CM000679.1:g.15903273del	GRCh37
NC_000017.9:g.15843998del	NCBI36
NG_029806.1:g.5580del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.111del MANE Select	ENSP00000261647.5:p.Glu39ArgfsTer?
ENST00000261647.9:c.111del	ENSP00000261647.5:p.Glu39ArgfsTer?
ENST00000466729.5:c.176del
ENST00000470399.1:c.126del	ENSP00000465082.1:p.Glu44ArgfsTer?
ENST00000475723.5:c.158del
ENST00000497842.6:n.136del
ENST00000583704.1:n.136del
NM_001271420.1:c.-348del	NP_001258349.1:n.-348del
NM_017775.3:c.111del	NP_060245.3:p.Glu39ArgfsTer?
XM_011523950.1:c.111del	XP_011522252.1:p.Glu39ArgfsTer?
XM_017024801.2:c.111del	XP_016880290.2:p.Glu39ArgfsTer?
XM_017024802.2:c.111del	XP_016880291.2:p.Glu39ArgfsTer?
XM_024450814.1:c.111del	XP_024306582.1:p.Glu39ArgfsTer?
NM_017775.4:c.111del MANE Select	NP_060245.3:p.Glu39ArgfsTer?
NM_001271420.2:c.-348del	NP_001258349.1:n.-348del