Canonical Allele Identifier: CA8407670

Gene: TTC19

Linked Data

• dbSNP Id: rs775345035
• ExAC: 17:15931506 TAA / T
• gnomAD v2: 17-15931506-TAA-T
• gnomAD v3: 17-16028192-TAA-T
• gnomAD v4: 17-16028192-TAA-T
• MyVariant Identifiers: chr17:g.15931507_15931508del (hg19) ; chr17:g.16028193_16028194del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028196_16028197del , CM000679.2:g.16028196_16028197del	GRCh38
NC_000017.10:g.15931510_15931511del , CM000679.1:g.15931510_15931511del	GRCh37
NC_000017.9:g.15872235_15872236del	NCBI36
NG_029806.1:g.33817_33818del
NG_047111.1:g.193553_193554del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261647.10:c.*674_*675del MANE Select	ENSP00000261647.5:n.*674_*675del
ENST00000261647.9:c.*674_*675del	ENSP00000261647.5:n.*674_*675del
ENST00000465567.1:n.2211_2212del
ENST00000470649.1:c.247+1494_247+1495del	ENSP00000465627.1:n.247+1494_247+1495del
ENST00000475723.5:c.2001_2002del
ENST00000481107.1:n.2485_2486del
NM_001271420.1:c.*674_*675del	NP_001258349.1:n.*674_*675del
NM_017775.3:c.*674_*675del	NP_060245.3:n.*674_*675del
XM_017024801.2:c.994+1494_994+1495del	XP_016880290.2:n.994+1494_994+1495del
XM_017024802.2:c.994+1494_994+1495del	XP_016880291.2:n.994+1494_994+1495del
NM_017775.4:c.*674_*675del MANE Select	NP_060245.3:n.*674_*675del
NM_001271420.2:c.*674_*675del	NP_001258349.1:n.*674_*675del