Canonical Allele Identifier: CA2576180961

Gene: TTC19

Linked Data

• gnomAD v4: 17-15999959-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15999962del , CM000679.2:g.15999962del	GRCh38
NC_000017.10:g.15903276del , CM000679.1:g.15903276del	GRCh37
NC_000017.9:g.15844001del	NCBI36
NG_029806.1:g.5583del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.114del MANE Select	ENSP00000261647.5:p.Glu39ArgfsTer?
ENST00000261647.9:c.114del	ENSP00000261647.5:p.Glu39ArgfsTer?
ENST00000466729.5:c.179del
ENST00000470399.1:c.129del	ENSP00000465082.1:p.Glu44ArgfsTer?
ENST00000475723.5:c.161del
ENST00000497842.6:n.139del
ENST00000583704.1:n.139del
NM_001271420.1:c.-345del	NP_001258349.1:n.-345del
NM_017775.3:c.114del	NP_060245.3:p.Glu39ArgfsTer?
XM_011523950.1:c.114del	XP_011522252.1:p.Glu39ArgfsTer?
XM_017024801.2:c.114del	XP_016880290.2:p.Glu39ArgfsTer?
XM_017024802.2:c.114del	XP_016880291.2:p.Glu39ArgfsTer?
XM_024450814.1:c.114del	XP_024306582.1:p.Glu39ArgfsTer?
NM_017775.4:c.114del MANE Select	NP_060245.3:p.Glu39ArgfsTer?
NM_001271420.2:c.-345del	NP_001258349.1:n.-345del