Canonical Allele Identifier: CA8407245

Gene: TTC19

Linked Data

• ClinVar Variation Id: 1170909
• ClinVar RCV Id: RCV001523684
• dbSNP Id: rs766241698
• ExAC: 17:15903358 GGGCCGGGCGGGGCC / G
• gnomAD v2: 17-15903358-GGGCCGGGCGGGGCC-G
• gnomAD v3: 17-16000044-GGGCCGGGCGGGGCC-G
• gnomAD v4: 17-16000044-GGGCCGGGCGGGGCC-G
• MyVariant Identifiers: chr17:g.15903359_15903372del (hg19) ; chr17:g.16000045_16000058del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16000057_16000070del , CM000679.2:g.16000057_16000070del	GRCh38
NC_000017.10:g.15903371_15903384del , CM000679.1:g.15903371_15903384del	GRCh37
NC_000017.9:g.15844096_15844109del	NCBI36
NG_029806.1:g.5678_5691del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.184+25_184+38del MANE Select	ENSP00000261647.5:n.184+25_184+38del
ENST00000261647.9:c.184+25_184+38del	ENSP00000261647.5:n.184+25_184+38del
ENST00000466729.5:c.249+25_249+38del
ENST00000470399.1:c.199+25_199+38del	ENSP00000465082.1:n.199+25_199+38del
ENST00000475723.5:c.231+25_231+38del
ENST00000497842.6:n.234_247del
ENST00000583704.1:n.209+25_209+38del
NM_001271420.1:c.-275+25_-275+38del	NP_001258349.1:n.-275+25_-275+38del
NM_017775.3:c.184+25_184+38del	NP_060245.3:n.184+25_184+38del
XM_011523950.1:c.184+25_184+38del	XP_011522252.1:n.184+25_184+38del
XM_017024801.2:c.184+25_184+38del	XP_016880290.2:n.184+25_184+38del
XM_017024802.2:c.184+25_184+38del	XP_016880291.2:n.184+25_184+38del
XM_024450814.1:c.184+25_184+38del	XP_024306582.1:n.184+25_184+38del
NM_017775.4:c.184+25_184+38del MANE Select	NP_060245.3:n.184+25_184+38del
NM_001271420.2:c.-275+25_-275+38del	NP_001258349.1:n.-275+25_-275+38del