Canonical Allele Identifier: CA1229578867
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241504247_241504252delinsTAAAGA , CM000663.2:g.241504247_241504252delinsTAAAGA GRCh38
NC_000001.10:g.241667547_241667552delinsTAAAGA , CM000663.1:g.241667547_241667552delinsTAAAGA GRCh37
NC_000001.9:g.239734170_239734175delinsTAAAGA NCBI36
NG_012338.1:g.20503_20508delinsTCTTTA , LRG_504:g.20503_20508delinsTCTTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1408-7_1408-2delinsTCTTTA
ENST00000682162.1:c.934-7_934-2delinsTCTTTA ENSP00000508203.1:n.934-7_934-2delinsTCTTTA
ENST00000682567.1:n.982-7_982-2delinsTCTTTA
ENST00000683521.1:c.905-7_905-2delinsTCTTTA ENSP00000506864.1:n.905-7_905-2delinsTCTTTA
ENST00000684161.1:n.2120-7_2120-2delinsTCTTTA
ENST00000684483.1:c.*301-7_*301-2delinsTCTTTA ENSP00000507894.1:n.*301-7_*301-2delinsTCTTTA
ENST00000366560.4:c.905-7_905-2delinsTCTTTA MANE Select ENSP00000355518.4:n.905-7_905-2delinsTCTTTA
ENST00000366560.3:c.905-7_905-2delinsTCTTTA ENSP00000355518.3:n.905-7_905-2delinsTCTTTA
NM_000143.3:c.905-7_905-2delinsTCTTTA , LRG_504t1:c.905-7_905-2delinsTCTTTA NP_000134.2:n.905-7_905-2delinsTCTTTA
XM_011544132.1:c.677-7_677-2delinsTCTTTA XP_011542434.1:n.677-7_677-2delinsTCTTTA
XM_011544132.2:c.677-7_677-2delinsTCTTTA XP_011542434.1:n.677-7_677-2delinsTCTTTA
NM_000143.4:c.905-7_905-2delinsTCTTTA MANE Select NP_000134.2:n.905-7_905-2delinsTCTTTA