Canonical Allele Identifier: CA2649656662

Gene: CFHR5

Linked Data

• gnomAD v4: 1-196996085-C-CTCCAACATGTTG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196996088_196996089insAACATGTTGTCC , CM000663.2:g.196996088_196996089insAACATGTTGTCC	GRCh38
NC_000001.10:g.196965218_196965219insAACATGTTGTCC , CM000663.1:g.196965218_196965219insAACATGTTGTCC	GRCh37
NC_000001.9:g.195231841_195231842insAACATGTTGTCC	NCBI36
NG_016365.1:g.23552_23553insAACATGTTGTCC , LRG_227:g.23552_23553insAACATGTTGTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.602_603insAACATGTTGTCC	ENSP00000514393.1:p.Pro201_Tyr202insThrCysCysPro
ENST00000699467.1:n.926_927insAACATGTTGTCC
ENST00000699468.1:c.-24-26_-24-25insAACATGTTGTCC	ENSP00000514394.1:n.-24-26_-24-25insAACATGTTGTCC
ENST00000256785.5:c.857_858insAACATGTTGTCC MANE Select	ENSP00000256785.4:p.Pro286_Tyr287insThrCysCysPro
ENST00000256785.4:c.857_858insAACATGTTGTCC	ENSP00000256785.4:p.Pro286_Tyr287insThrCysCysPro
NM_030787.3:c.857_858insAACATGTTGTCC , LRG_227t1:c.857_858insAACATGTTGTCC	NP_110414.1:p.Pro286_Tyr287insThrCysCysPro
XM_011510020.1:c.866_867insAACATGTTGTCC	XP_011508322.1:p.Pro289_Tyr290insThrCysCysPro
XM_011510020.2:c.866_867insAACATGTTGTCC	XP_011508322.1:p.Pro289_Tyr290insThrCysCysPro
NM_030787.4:c.857_858insAACATGTTGTCC MANE Select	NP_110414.1:p.Pro286_Tyr287insThrCysCysPro