Canonical Allele Identifier: CA2636259693

Gene: TTC19

Linked Data

• gnomAD v4: 17-15999969-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15999970del , CM000679.2:g.15999970del	GRCh38
NC_000017.10:g.15903284del , CM000679.1:g.15903284del	GRCh37
NC_000017.9:g.15844009del	NCBI36
NG_029806.1:g.5591del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.122del MANE Select	ENSP00000261647.5:p.Gln41ArgfsTer?
ENST00000261647.9:c.122del	ENSP00000261647.5:p.Gln41ArgfsTer?
ENST00000466729.5:c.187del
ENST00000470399.1:c.137del	ENSP00000465082.1:p.Gln46ArgfsTer?
ENST00000475723.5:c.169del
ENST00000497842.6:n.147del
ENST00000583704.1:n.147del
NM_001271420.1:c.-337del	NP_001258349.1:n.-337del
NM_017775.3:c.122del	NP_060245.3:p.Gln41ArgfsTer?
XM_011523950.1:c.122del	XP_011522252.1:p.Gln41ArgfsTer?
XM_017024801.2:c.122del	XP_016880290.2:p.Gln41ArgfsTer?
XM_017024802.2:c.122del	XP_016880291.2:p.Gln41ArgfsTer?
XM_024450814.1:c.122del	XP_024306582.1:p.Gln41ArgfsTer?
NM_017775.4:c.122del MANE Select	NP_060245.3:p.Gln41ArgfsTer?
NM_001271420.2:c.-337del	NP_001258349.1:n.-337del