Canonical Allele Identifier: CA624957646
Gene: TTC19 HGNC NCBI

Linked Data

dbSNP Id: rs1484659389
gnomAD v2: 17-15931859-T-TA
gnomAD v3: 17-16028545-T-TA
gnomAD v4: 17-16028545-T-TA
MyVariant Identifiers: chr17:g.15931859_15931860insA (hg19) chr17:g.16028545_16028546insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16028546dup , CM000679.2:g.16028546dup GRCh38
NC_000017.10:g.15931860dup , CM000679.1:g.15931860dup GRCh37
NC_000017.9:g.15872585dup NCBI36
NG_029806.1:g.34167dup
NG_047111.1:g.193201dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261647.10:c.*1024dup MANE Select ENSP00000261647.5:n.*1024dup
ENST00000261647.9:c.*1024dup ENSP00000261647.5:n.*1024dup
ENST00000465567.1:n.2561dup
ENST00000470649.1:c.247+1844dup ENSP00000465627.1:n.247+1844dup
ENST00000475723.5:c.2351dup
ENST00000481107.1:n.2835dup
NM_001271420.1:c.*1024dup NP_001258349.1:n.*1024dup
NM_017775.3:c.*1024dup NP_060245.3:n.*1024dup
XM_017024801.2:c.994+1844dup XP_016880290.2:n.994+1844dup
XM_017024802.2:c.994+1844dup XP_016880291.2:n.994+1844dup
NM_017775.4:c.*1024dup MANE Select NP_060245.3:n.*1024dup
NM_001271420.2:c.*1024dup NP_001258349.1:n.*1024dup
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