Canonical Allele Identifier: CA1308089

Gene: CFHR5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197004817_197004818del , CM000663.2:g.197004817_197004818del	GRCh38
NC_000001.10:g.196973947_196973948del , CM000663.1:g.196973947_196973948del	GRCh37
NC_000001.9:g.195240570_195240571del	NCBI36
NG_016365.1:g.32281_32282del , LRG_227:g.32281_32282del

Transcript Alleles

HGVS	Amino-acid Change
NM_030787.4:c.1487_1488del MANE Select	NP_110414.1:p.Gln496LeufsTer15
ENST00000256785.5:c.1487_1488del MANE Select	ENSP00000256785.4:p.Gln496LeufsTer15
NM_030787.3:c.1487_1488del , LRG_227t1:c.1487_1488del	NP_110414.1:p.Gln496LeufsTer15
ENST00000256785.4:c.1487_1488del	ENSP00000256785.4:p.Gln496LeufsTer15
ENST00000699466.1:c.1232_1233del	ENSP00000514393.1:p.Gln411LeufsTer15
ENST00000699467.1:n.1556_1557del
ENST00000699468.1:c.581_582del	ENSP00000514394.1:p.Gln194LeufsTer15
ENST00000699469.1:n.1175_1176del
ENST00000699470.1:n.589_590del
ENST00000699471.1:n.909_910del
XM_011510020.1:c.1496_1497del	XP_011508322.1:p.Gln499LeufsTer15
XM_011510020.2:c.1496_1497del	XP_011508322.1:p.Gln499LeufsTer15