Canonical Allele Identifier: CA2610809171

Gene: CFAP43

Linked Data

• gnomAD v4: 10-104162006-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104162007del , CM000672.2:g.104162007del	GRCh38
NC_000010.10:g.105921765del , CM000672.1:g.105921765del	GRCh37
NC_000010.9:g.105911755del	NCBI36
NG_051581.1:g.75371del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357060.8:c.3368del MANE Select	ENSP00000349568.3:p.Met1123ArgfsTer14
ENST00000357060.7:c.3368del	ENSP00000349568.3:p.Met1123ArgfsTer14
ENST00000434629.5:c.1450del
NM_025145.5:c.3368del	NP_079421.5:p.Met1123ArgfsTer14
XM_005270171.1:c.3371del	XP_005270228.1:p.Met1124ArgfsTer14
XM_005270172.2:c.3371del	XP_005270229.1:p.Met1124ArgfsTer14
XM_011540196.1:c.3485del	XP_011538498.1:p.Met1162ArgfsTer14
XM_011540197.1:c.3485del	XP_011538499.1:p.Met1162ArgfsTer14
XM_011540198.1:c.3368del	XP_011538500.1:p.Met1123ArgfsTer14
XM_011540199.1:c.3368del	XP_011538501.1:p.Met1123ArgfsTer14
XM_011540200.1:c.3485del	XP_011538502.1:p.Met1162ArgfsTer14
XM_011540201.1:c.3485del	XP_011538503.1:p.Met1162ArgfsTer14
XM_011540202.1:c.2714del	XP_011538504.1:p.Met905ArgfsTer14
XM_011540203.1:c.1268del	XP_011538505.1:p.Met423ArgfsTer14
NM_025145.6:c.3368del	NP_079421.5:p.Met1123ArgfsTer14
XM_005270171.2:c.3371del	XP_005270228.1:p.Met1124ArgfsTer14
XM_005270172.3:c.3371del	XP_005270229.1:p.Met1124ArgfsTer14
XM_011540196.2:c.3485del	XP_011538498.1:p.Met1162ArgfsTer14
XM_011540197.2:c.3485del	XP_011538499.1:p.Met1162ArgfsTer14
XM_011540198.2:c.3368del	XP_011538500.1:p.Met1123ArgfsTer14
XM_011540199.2:c.3368del	XP_011538501.1:p.Met1123ArgfsTer14
XM_011540200.2:c.3485del	XP_011538502.1:p.Met1162ArgfsTer14
XM_011540201.2:c.3485del	XP_011538503.1:p.Met1162ArgfsTer14
XM_011540202.2:c.2714del	XP_011538504.1:p.Met905ArgfsTer14
XM_017016681.1:c.3482del	XP_016872170.1:p.Met1161ArgfsTer14
XM_017016682.1:c.3137del	XP_016872171.1:p.Met1046ArgfsTer14
XM_024448177.1:c.1871del	XP_024303945.1:p.Met624ArgfsTer14
XM_024448178.1:c.1268del	XP_024303946.1:p.Met423ArgfsTer14
XR_002957015.1:n.3254del
NM_025145.7:c.3368del MANE Select	NP_079421.5:p.Met1123ArgfsTer14