Canonical Allele Identifier: CA625312139

Gene: TTC19

Linked Data

• dbSNP Id: rs1227465219
• gnomAD v2: 17-15903320-GC-G
• gnomAD v4: 17-16000006-GC-G
• MyVariant Identifiers: chr17:g.15903321del (hg19) ; chr17:g.16000007del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16000009del , CM000679.2:g.16000009del	GRCh38
NC_000017.10:g.15903323del , CM000679.1:g.15903323del	GRCh37
NC_000017.9:g.15844048del	NCBI36
NG_029806.1:g.5630del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.161del MANE Select	ENSP00000261647.5:p.Pro54GlnfsTer?
ENST00000261647.9:c.161del	ENSP00000261647.5:p.Pro54GlnfsTer?
ENST00000466729.5:c.226del
ENST00000470399.1:c.176del	ENSP00000465082.1:p.Pro59GlnfsTer?
ENST00000475723.5:c.208del
ENST00000497842.6:n.186del
ENST00000583704.1:n.186del
NM_001271420.1:c.-298del	NP_001258349.1:n.-298del
NM_017775.3:c.161del	NP_060245.3:p.Pro54GlnfsTer?
XM_011523950.1:c.161del	XP_011522252.1:p.Pro54GlnfsTer?
XM_017024801.2:c.161del	XP_016880290.2:p.Pro54GlnfsTer?
XM_017024802.2:c.161del	XP_016880291.2:p.Pro54GlnfsTer?
XM_024450814.1:c.161del	XP_024306582.1:p.Pro54GlnfsTer?
NM_017775.4:c.161del MANE Select	NP_060245.3:p.Pro54GlnfsTer?
NM_001271420.2:c.-298del	NP_001258349.1:n.-298del