Canonical Allele Identifier: CA174835

Gene: CFAP65

Linked Data

• ClinVar Variation Id: 161813
• ClinVar RCV Id: RCV000149349
• dbSNP Id: rs193920770
• COSMIC: COSM1178629
• MyVariant Identifiers: chr2:g.219900144del (hg19) ; chr2:g.219035422del (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219035422del , CM000664.2:g.219035422del	GRCh38
NC_000002.11:g.219900144del , CM000664.1:g.219900144del	GRCh37
NC_000002.10:g.219608388del	NCBI36
NG_051336.1:g.11130del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341552.10:c.542+58del MANE Select	ENSP00000340776.5:n.542+58del
ENST00000295729.6:c.405del	ENSP00000295729.2:p.Leu136SerfsTer13
ENST00000341552.9:c.542+58del	ENSP00000340776.5:n.542+58del
ENST00000409865.7:c.509+58del	ENSP00000386945.3:n.509+58del
ENST00000410037.5:c.347+58del	ENSP00000386258.1:n.347+58del
ENST00000436631.5:c.347+58del	ENSP00000396836.1:n.347+58del
ENST00000441968.5:c.-1178+58del	ENSP00000413377.2:n.-1178+58del
ENST00000453220.5:c.542+58del	ENSP00000409117.1:n.542+58del
ENST00000457968.5:c.509+58del	ENSP00000393483.1:n.509+58del
ENST00000462848.5:n.524+58del
ENST00000463683.1:n.1026+58del
NM_001278295.1:c.509+58del	NP_001265224.1:n.509+58del
NM_001278296.1:c.347+58del	NP_001265225.1:n.347+58del
NM_152389.3:c.405del	NP_689602.2:p.Leu136SerfsTer13
NM_194302.3:c.542+58del	NP_919278.2:n.542+58del
XM_011510903.1:c.545+58del	XP_011509205.1:n.545+58del
XM_011510904.1:c.545+58del	XP_011509206.1:n.545+58del
XM_011510905.1:c.542+58del	XP_011509207.1:n.542+58del
XM_011510906.1:c.542+58del	XP_011509208.1:n.542+58del
XM_011510907.1:c.542+58del	XP_011509209.1:n.542+58del
XM_011510908.1:c.542+58del	XP_011509210.1:n.542+58del
XM_011510909.1:c.542+58del	XP_011509211.1:n.542+58del
XM_011510910.1:c.545+58del	XP_011509212.1:n.545+58del
XM_011510911.1:c.347+58del	XP_011509213.1:n.347+58del
XM_011510912.1:c.347+58del	XP_011509214.1:n.347+58del
XM_011510913.1:c.347+58del	XP_011509215.1:n.347+58del
XM_011510914.1:c.347+58del	XP_011509216.1:n.347+58del
XM_011510915.1:c.347+58del	XP_011509217.1:n.347+58del
XM_011510916.1:c.545+58del	XP_011509218.1:n.545+58del
XM_011510917.1:c.347+58del	XP_011509219.1:n.347+58del
XM_011510918.1:c.347+58del	XP_011509220.1:n.347+58del
XM_011510919.1:c.545+58del	XP_011509221.1:n.545+58del
XM_011510920.1:c.545+58del	XP_011509222.1:n.545+58del
XM_011510904.2:c.545+58del	XP_011509206.1:n.545+58del
XM_017003752.1:c.542+58del	XP_016859241.1:n.542+58del
XM_017003753.1:c.509+58del	XP_016859242.1:n.509+58del
XM_017003754.1:c.347+58del	XP_016859243.1:n.347+58del
XM_017003755.1:c.347+58del	XP_016859244.1:n.347+58del
NM_194302.4:c.542+58del MANE Select	NP_919278.2:n.542+58del
NM_001278296.2:c.347+58del	NP_001265225.1:n.347+58del
NM_152389.4:c.405del	NP_689602.2:p.Leu136SerfsTer13