Canonical Allele Identifier: CA10644919
Gene: TTC19 HGNC NCBI

Linked Data

ClinVar Variation Id: 321972
ClinVar RCV Id: RCV000310992
dbSNP Id: rs59177775
gnomAD v3: 17-16028818-C-CAA
gnomAD v4: 17-16028818-C-CAA
MyVariant Identifiers: chr17:g.15932159_15932160dupAA (hg19) chr17:g.15932160_15932161insAA (hg19) chr17:g.15932132_15932133insAA (hg19) chr17:g.16028845_16028846dupAA (hg38) chr17:g.16028846_16028847insAA (hg38) chr17:g.16028818_16028819insAA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16028845_16028846dup , CM000679.2:g.16028845_16028846dup GRCh38
NC_000017.10:g.15932159_15932160dup , CM000679.1:g.15932159_15932160dup GRCh37
NC_000017.9:g.15872884_15872885dup NCBI36
NG_029806.1:g.34466_34467dup
NG_047111.1:g.192927_192928dup

Transcript Alleles

HGVS Amino-acid change
ENST00000261647.10:c.*1323_*1324dup MANE Select ENSP00000261647.5:n.*1323_*1324dup
ENST00000261647.9:c.*1323_*1324dup ENSP00000261647.5:n.*1323_*1324dup
ENST00000470649.1:c.247+2143_247+2144dup ENSP00000465627.1:n.247+2143_247+2144dup
NM_001271420.1:c.*1323_*1324dup NP_001258349.1:n.*1323_*1324dup
NM_017775.3:c.*1323_*1324dup NP_060245.3:n.*1323_*1324dup
XM_017024801.2:c.994+2143_994+2144dup XP_016880290.2:n.994+2143_994+2144dup
XM_017024802.2:c.994+2143_994+2144dup XP_016880291.2:n.994+2143_994+2144dup
NM_017775.4:c.*1323_*1324dup MANE Select NP_060245.3:n.*1323_*1324dup
NM_001271420.2:c.*1323_*1324dup NP_001258349.1:n.*1323_*1324dup
Search 100 bp 5'
Search 100 bp 3'