Canonical Allele Identifier: CA1933459817
Gene: CFAP43 HGNC NCBI

Linked Data

dbSNP Id: rs2088897996

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104161950_104161960del , CM000672.2:g.104161950_104161960del GRCh38
NC_000010.10:g.105921708_105921718del , CM000672.1:g.105921708_105921718del GRCh37
NC_000010.9:g.105911698_105911708del NCBI36
NG_051581.1:g.75420_75430del

Transcript Alleles

HGVS Amino-acid Change
ENST00000357060.8:c.3414+3_3414+13del MANE Select ENSP00000349568.3:n.3414+3_3414+13del
ENST00000357060.7:c.3414+3_3414+13del ENSP00000349568.3:n.3414+3_3414+13del
ENST00000434629.5:c.1496+3_1496+13del
NM_025145.5:c.3414+3_3414+13del NP_079421.5:n.3414+3_3414+13del
XM_005270171.1:c.3417+3_3417+13del XP_005270228.1:n.3417+3_3417+13del
XM_005270172.2:c.3417+3_3417+13del XP_005270229.1:n.3417+3_3417+13del
XM_011540196.1:c.3531+3_3531+13del XP_011538498.1:n.3531+3_3531+13del
XM_011540197.1:c.3531+3_3531+13del XP_011538499.1:n.3531+3_3531+13del
XM_011540198.1:c.3414+3_3414+13del XP_011538500.1:n.3414+3_3414+13del
XM_011540199.1:c.3414+3_3414+13del XP_011538501.1:n.3414+3_3414+13del
XM_011540200.1:c.3531+3_3531+13del XP_011538502.1:n.3531+3_3531+13del
XM_011540201.1:c.3531+3_3531+13del XP_011538503.1:n.3531+3_3531+13del
XM_011540202.1:c.2760+3_2760+13del XP_011538504.1:n.2760+3_2760+13del
XM_011540203.1:c.1314+3_1314+13del XP_011538505.1:n.1314+3_1314+13del
NM_025145.6:c.3414+3_3414+13del NP_079421.5:n.3414+3_3414+13del
XM_005270171.2:c.3417+3_3417+13del XP_005270228.1:n.3417+3_3417+13del
XM_005270172.3:c.3417+3_3417+13del XP_005270229.1:n.3417+3_3417+13del
XM_011540196.2:c.3531+3_3531+13del XP_011538498.1:n.3531+3_3531+13del
XM_011540197.2:c.3531+3_3531+13del XP_011538499.1:n.3531+3_3531+13del
XM_011540198.2:c.3414+3_3414+13del XP_011538500.1:n.3414+3_3414+13del
XM_011540199.2:c.3414+3_3414+13del XP_011538501.1:n.3414+3_3414+13del
XM_011540200.2:c.3531+3_3531+13del XP_011538502.1:n.3531+3_3531+13del
XM_011540201.2:c.3531+3_3531+13del XP_011538503.1:n.3531+3_3531+13del
XM_011540202.2:c.2760+3_2760+13del XP_011538504.1:n.2760+3_2760+13del
XM_017016681.1:c.3528+3_3528+13del XP_016872170.1:n.3528+3_3528+13del
XM_017016682.1:c.3183+3_3183+13del XP_016872171.1:n.3183+3_3183+13del
XM_024448177.1:c.1917+3_1917+13del XP_024303945.1:n.1917+3_1917+13del
XM_024448178.1:c.1314+3_1314+13del XP_024303946.1:n.1314+3_1314+13del
XR_002957015.1:n.3300+3_3300+13del
NM_025145.7:c.3414+3_3414+13del MANE Select NP_079421.5:n.3414+3_3414+13del