Canonical Allele Identifier: CA288187854

Gene: TTC19

Linked Data

• dbSNP Id: rs926746606
• gnomAD v3: 17-16000021-CGCT-C
• gnomAD v4: 17-16000021-CGCT-C
• MyVariant Identifiers: chr17:g.15903336_15903338del (hg19) ; chr17:g.16000022_16000024del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16000026_16000028del , CM000679.2:g.16000026_16000028del	GRCh38
NC_000017.10:g.15903340_15903342del , CM000679.1:g.15903340_15903342del	GRCh37
NC_000017.9:g.15844065_15844067del	NCBI36
NG_029806.1:g.5647_5649del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.178_180del MANE Select	ENSP00000261647.5:p.Leu60del
ENST00000261647.9:c.178_180del	ENSP00000261647.5:p.Leu60del
ENST00000466729.5:c.243_245del
ENST00000470399.1:c.193_195del	ENSP00000465082.1:p.Leu65del
ENST00000475723.5:c.225_227del
ENST00000497842.6:n.203_205del
ENST00000583704.1:n.203_205del
NM_001271420.1:c.-281_-279del	NP_001258349.1:n.-281_-279del
NM_017775.3:c.178_180del	NP_060245.3:p.Leu60del
XM_011523950.1:c.178_180del	XP_011522252.1:p.Leu60del
XM_017024801.2:c.178_180del	XP_016880290.2:p.Leu60del
XM_017024802.2:c.178_180del	XP_016880291.2:p.Leu60del
XM_024450814.1:c.178_180del	XP_024306582.1:p.Leu60del
NM_017775.4:c.178_180del MANE Select	NP_060245.3:p.Leu60del
NM_001271420.2:c.-281_-279del	NP_001258349.1:n.-281_-279del