Canonical Allele Identifier: CA7813503
Gene: IFT140 HGNC NCBI

Linked Data

ClinVar Variation Id: 863072
ClinVar RCV Id: RCV001069954 RCV001075635 RCV002282453
dbSNP Id: rs769075694
ExAC: 16:1575885 CACTA / C
gnomAD v2: 16-1575885-CACTA-C
gnomAD v3: 16-1525884-CACTA-C
gnomAD v4: 16-1525884-CACTA-C
MyVariant Identifiers: chr16:g.1575886_1575889del (hg19) chr16:g.1525885_1525888del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1525888_1525891del , CM000678.2:g.1525888_1525891del GRCh38
NC_000016.9:g.1575889_1575892del , CM000678.1:g.1575889_1575892del GRCh37
NC_000016.8:g.1515890_1515893del NCBI36
NG_032783.1:g.91221_91224del

Transcript Alleles

HGVS Amino-acid change
ENST00000426508.7:c.2767_2768+2del
ENST00000361339.9:c.349_350+2del
ENST00000397417.6:c.*1205_*1206+2del
ENST00000426508.6:c.2767_2768+2del
ENST00000565298.5:n.1996_1997+2del
ENST00000566818.1:n.482_483+2del
NM_014714.3:c.2767_2768+2del
XM_006720989.2:c.2767_2768+2del
XM_006720990.2:c.2767_2768+2del
XM_006720991.2:c.2767_2768+2del
XM_006720992.2:c.400_401+2del
XM_011522766.1:c.2521_2522+2del
XM_011522767.1:c.1792_1793+2del
XM_006720990.3:c.2767_2768+2del
XM_006720991.3:c.2767_2768+2del
XM_006720992.3:c.400_401+2del
XM_011522766.3:c.2521_2522+2del
XM_011522767.2:c.1792_1793+2del
XM_017023910.1:c.2767_2768+2del
XM_017023911.1:c.952_953+2del
NM_014714.4:c.2767_2768+2del
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