Canonical Allele Identifier: CA2574662343
Gene: CFAP43 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104162286_104162288del , CM000672.2:g.104162286_104162288del GRCh38
NC_000010.10:g.105922044_105922046del , CM000672.1:g.105922044_105922046del GRCh37
NC_000010.9:g.105912034_105912036del NCBI36
NG_051581.1:g.75091_75093del

Transcript Alleles

HGVS Amino-acid Change
ENST00000357060.8:c.3333+30_3333+32del MANE Select ENSP00000349568.3:n.3333+30_3333+32del
ENST00000357060.7:c.3333+30_3333+32del ENSP00000349568.3:n.3333+30_3333+32del
ENST00000434629.5:c.1415+30_1415+32del
NM_025145.5:c.3333+30_3333+32del NP_079421.5:n.3333+30_3333+32del
XM_005270171.1:c.3336+30_3336+32del XP_005270228.1:n.3336+30_3336+32del
XM_005270172.2:c.3336+30_3336+32del XP_005270229.1:n.3336+30_3336+32del
XM_011540196.1:c.3450+30_3450+32del XP_011538498.1:n.3450+30_3450+32del
XM_011540197.1:c.3450+30_3450+32del XP_011538499.1:n.3450+30_3450+32del
XM_011540198.1:c.3333+30_3333+32del XP_011538500.1:n.3333+30_3333+32del
XM_011540199.1:c.3333+30_3333+32del XP_011538501.1:n.3333+30_3333+32del
XM_011540200.1:c.3450+30_3450+32del XP_011538502.1:n.3450+30_3450+32del
XM_011540201.1:c.3450+30_3450+32del XP_011538503.1:n.3450+30_3450+32del
XM_011540202.1:c.2679+30_2679+32del XP_011538504.1:n.2679+30_2679+32del
XM_011540203.1:c.1233+30_1233+32del XP_011538505.1:n.1233+30_1233+32del
NM_025145.6:c.3333+30_3333+32del NP_079421.5:n.3333+30_3333+32del
XM_005270171.2:c.3336+30_3336+32del XP_005270228.1:n.3336+30_3336+32del
XM_005270172.3:c.3336+30_3336+32del XP_005270229.1:n.3336+30_3336+32del
XM_011540196.2:c.3450+30_3450+32del XP_011538498.1:n.3450+30_3450+32del
XM_011540197.2:c.3450+30_3450+32del XP_011538499.1:n.3450+30_3450+32del
XM_011540198.2:c.3333+30_3333+32del XP_011538500.1:n.3333+30_3333+32del
XM_011540199.2:c.3333+30_3333+32del XP_011538501.1:n.3333+30_3333+32del
XM_011540200.2:c.3450+30_3450+32del XP_011538502.1:n.3450+30_3450+32del
XM_011540201.2:c.3450+30_3450+32del XP_011538503.1:n.3450+30_3450+32del
XM_011540202.2:c.2679+30_2679+32del XP_011538504.1:n.2679+30_2679+32del
XM_017016681.1:c.3447+30_3447+32del XP_016872170.1:n.3447+30_3447+32del
XM_017016682.1:c.3102+30_3102+32del XP_016872171.1:n.3102+30_3102+32del
XM_024448177.1:c.1836+30_1836+32del XP_024303945.1:n.1836+30_1836+32del
XM_024448178.1:c.1233+30_1233+32del XP_024303946.1:n.1233+30_1233+32del
XR_002957015.1:n.3219+30_3219+32del
NM_025145.7:c.3333+30_3333+32del MANE Select NP_079421.5:n.3333+30_3333+32del