Canonical Allele Identifier: CA2610809473
Gene: CFAP43 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104162214_104162220del , CM000672.2:g.104162214_104162220del GRCh38
NC_000010.10:g.105921972_105921978del , CM000672.1:g.105921972_105921978del GRCh37
NC_000010.9:g.105911962_105911968del NCBI36
NG_051581.1:g.75163_75169del

Transcript Alleles

HGVS Amino-acid Change
ENST00000357060.8:c.3333+102_3333+108del MANE Select ENSP00000349568.3:n.3333+102_3333+108del
ENST00000357060.7:c.3333+102_3333+108del ENSP00000349568.3:n.3333+102_3333+108del
ENST00000434629.5:c.1415+102_1415+108del
NM_025145.5:c.3333+102_3333+108del NP_079421.5:n.3333+102_3333+108del
XM_005270171.1:c.3336+102_3336+108del XP_005270228.1:n.3336+102_3336+108del
XM_005270172.2:c.3336+102_3336+108del XP_005270229.1:n.3336+102_3336+108del
XM_011540196.1:c.3450+102_3450+108del XP_011538498.1:n.3450+102_3450+108del
XM_011540197.1:c.3450+102_3450+108del XP_011538499.1:n.3450+102_3450+108del
XM_011540198.1:c.3333+102_3333+108del XP_011538500.1:n.3333+102_3333+108del
XM_011540199.1:c.3333+102_3333+108del XP_011538501.1:n.3333+102_3333+108del
XM_011540200.1:c.3450+102_3450+108del XP_011538502.1:n.3450+102_3450+108del
XM_011540201.1:c.3450+102_3450+108del XP_011538503.1:n.3450+102_3450+108del
XM_011540202.1:c.2679+102_2679+108del XP_011538504.1:n.2679+102_2679+108del
XM_011540203.1:c.1233+102_1233+108del XP_011538505.1:n.1233+102_1233+108del
NM_025145.6:c.3333+102_3333+108del NP_079421.5:n.3333+102_3333+108del
XM_005270171.2:c.3336+102_3336+108del XP_005270228.1:n.3336+102_3336+108del
XM_005270172.3:c.3336+102_3336+108del XP_005270229.1:n.3336+102_3336+108del
XM_011540196.2:c.3450+102_3450+108del XP_011538498.1:n.3450+102_3450+108del
XM_011540197.2:c.3450+102_3450+108del XP_011538499.1:n.3450+102_3450+108del
XM_011540198.2:c.3333+102_3333+108del XP_011538500.1:n.3333+102_3333+108del
XM_011540199.2:c.3333+102_3333+108del XP_011538501.1:n.3333+102_3333+108del
XM_011540200.2:c.3450+102_3450+108del XP_011538502.1:n.3450+102_3450+108del
XM_011540201.2:c.3450+102_3450+108del XP_011538503.1:n.3450+102_3450+108del
XM_011540202.2:c.2679+102_2679+108del XP_011538504.1:n.2679+102_2679+108del
XM_017016681.1:c.3447+102_3447+108del XP_016872170.1:n.3447+102_3447+108del
XM_017016682.1:c.3102+102_3102+108del XP_016872171.1:n.3102+102_3102+108del
XM_024448177.1:c.1836+102_1836+108del XP_024303945.1:n.1836+102_1836+108del
XM_024448178.1:c.1233+102_1233+108del XP_024303946.1:n.1233+102_1233+108del
XR_002957015.1:n.3219+102_3219+108del
NM_025145.7:c.3333+102_3333+108del MANE Select NP_079421.5:n.3333+102_3333+108del