Canonical Allele Identifier: CA2544000

Gene: CFAP44

Linked Data

• ClinVar Variation Id: 430938
• ClinVar RCV Id: RCV000496068
• dbSNP Id: rs780798708
• ExAC: 3:113099791 CAT / C
• gnomAD v2: 3-113099791-CAT-C
• gnomAD v3: 3-113380944-CAT-C
• gnomAD v4: 3-113380944-CAT-C
• MyVariant Identifiers: chr3:g.113099792_113099793del (hg19) ; chr3:g.113380945_113380946del (hg38)
• PubMed: PMID:28552195

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.113380945_113380946del , CM000665.2:g.113380945_113380946del	GRCh38
NC_000003.11:g.113099792_113099793del , CM000665.1:g.113099792_113099793del	GRCh37
NC_000003.10:g.114582482_114582483del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393845.9:c.2005_2006del MANE Select	ENSP00000377428.2:p.Met669ValfsTer13
ENST00000649772.1:c.*2170_*2171del	ENSP00000497606.1:n.*2170_*2171del
ENST00000295868.6:c.2005_2006del	ENSP00000295868.2:p.Met669ValfsTer13
ENST00000393845.6:c.2005_2006del	ENSP00000377428.2:p.Met669ValfsTer13
ENST00000488854.6:c.*1421_*1422del	ENSP00000419844.2:n.*1421_*1422del
NM_001164496.1:c.2005_2006del	NP_001157968.1:p.Met669ValfsTer13
NM_018338.3:c.2005_2006del	NP_060808.2:p.Met669ValfsTer13
XM_006713696.1:c.2137_2138del	XP_006713759.1:p.Met713ValfsTer13
XM_006713697.1:c.1984_1985del	XP_006713760.1:p.Met662ValfsTer13
XM_006713699.2:c.2137_2138del	XP_006713762.1:p.Met713ValfsTer13
XM_011512975.1:c.2137_2138del	XP_011511277.1:p.Met713ValfsTer13
XM_011512976.1:c.2005_2006del	XP_011511278.1:p.Met669ValfsTer13
XM_011512977.1:c.2137_2138del	XP_011511279.1:p.Met713ValfsTer13
XM_011512978.1:c.1456_1457del	XP_011511280.1:p.Met486ValfsTer13
XM_011512979.1:c.1105_1106del	XP_011511281.1:p.Met369ValfsTer13
XM_011512980.1:c.2137_2138del	XP_011511282.1:p.Met713ValfsTer13
XM_011512981.1:c.2137_2138del	XP_011511283.1:p.Met713ValfsTer13
XM_011512982.1:c.2137_2138del	XP_011511284.1:p.Met713ValfsTer13
XM_011512983.1:c.2137_2138del	XP_011511285.1:p.Met713ValfsTer13
XM_011512984.1:c.2137_2138del	XP_011511286.1:p.Met713ValfsTer13
XR_427370.1:n.2662_2663del
XR_427371.2:n.2662_2663del
NM_001164496.2:c.2005_2006del MANE Select	NP_001157968.1:p.Met669ValfsTer13