Canonical Allele Identifier: CA530378992

Gene: FH

Linked Data

• gnomAD v2: 1-241667527-G-GCGGTGATGAACGGAAGTTCTGTAAATTCAGAGATGTATTTTGCGACTTTCGTGTCGTAGTTTTTTGGAGCGTTTAGCCCTGTTCCCACGGCAGTCCCTCC
• MyVariant Identifiers: chr1:g.241667527_241667528insCGGTGATGAACGGAAGTTCTGTAAATTCAGAGATGTATTTTGCGACTTTCGTGTCGTAGTTTTTTGGAGCGTTTAGCCCTGTTCCCACGGCAGTCCCTCC (hg19) ; chr1:g.241504227_241504228insCGGTGATGAACGGAAGTTCTGTAAATTCAGAGATGTATTTTGCGACTTTCGTGTCGTAGTTTTTTGGAGCGTTTAGCCCTGTTCCCACGGCAGTCCCTCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504228_241504229insGGTGATGAACGGAAGTTCTGTAAATTCAGAGATGTATTTTGCGACTTTCGTGTCGTAGTTTTTTGGAGCGTTTAGCCCTGTTCCCACGGCAGTCCCTCCC , CM000663.2:g.241504228_241504229insGGTGATGAACGGAAGTTCTGTAAATTCAGAGATGTATTTTGCGACTTTCGTGTCGTAGTTTTTTGGAGCGTTTAGCCCTGTTCCCACGGCAGTCCCTCCC	GRCh38
NC_000001.10:g.241667528_241667529insGGTGATGAACGGAAGTTCTGTAAATTCAGAGATGTATTTTGCGACTTTCGTGTCGTAGTTTTTTGGAGCGTTTAGCCCTGTTCCCACGGCAGTCCCTCCC , CM000663.1:g.241667528_241667529insGGTGATGAACGGAAGTTCTGTAAATTCAGAGATGTATTTTGCGACTTTCGTGTCGTAGTTTTTTGGAGCGTTTAGCCCTGTTCCCACGGCAGTCCCTCCC	GRCh37
NC_000001.9:g.239734151_239734152insGGTGATGAACGGAAGTTCTGTAAATTCAGAGATGTATTTTGCGACTTTCGTGTCGTAGTTTTTTGGAGCGTTTAGCCCTGTTCCCACGGCAGTCCCTCCC	NCBI36
NG_012338.1:g.20527_20528insGGAGGGACTGCCGTGGGAACAGGGCTAAACGCTCCAAAAAACTACGACACGAAAGTCGCAAAATACATCTCTGAATTTACAGAACTTCCGTTCATCACCG , LRG_504:g.20527_20528insGGAGGGACTGCCGTGGGAACAGGGCTAAACGCTCCAAAAAACTACGACACGAAAGTCGCAAAATACATCTCTGAATTTACAGAACTTCCGTTCATCACCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1425_1426insGGAGGGACTGCCGTGGGAACAGGGCTAAACGCTCCAAAAAACTACGACACGAAAGTCGCAAAATACATCTCTGAATTTACAGAACTTCCGTTCATCACCG
ENST00000682162.1:c.951_952insGGAGGGACTGCCGTGGGAACAGGGCTAAACGCTCCAAAAAACTACGACACGAAAGTCGCAAAATACATCTCTGAATTTACAGAACTTCCGTTCATCACCG	ENSP00000508203.1:n.951_952insGGAGGGACTGCCGTGGGAACAGGGCTAAACG...
ENST00000682567.1:n.999_1000insGGAGGGACTGCCGTGGGAACAGGGCTAAACGCTCCAAAAAACTACGACACGAAAGTCGCAAAATACATCTCTGAATTTACAGAACTTCCGTTCATCACCG
ENST00000683521.1:c.922_923insGGAGGGACTGCCGTGGGAACAGGGCTAAACGCTCCAAAAAACTACGACACGAAAGTCGCAAAATACATCTCTGAATTTACAGAACTTCCGTTCATCACCG	ENSP00000506864.1:p.Ala308GlyfsTer25
ENST00000684161.1:n.2137_2138insGGAGGGACTGCCGTGGGAACAGGGCTAAACGCTCCAAAAAACTACGACACGAAAGTCGCAAAATACATCTCTGAATTTACAGAACTTCCGTTCATCACCG
ENST00000684483.1:c.*318_*319insGGAGGGACTGCCGTGGGAACAGGGCTAAACGCTCCAAAAAACTACGACACGAAAGTCGCAAAATACATCTCTGAATTTACAGAACTTCCGTTCATCACCG	ENSP00000507894.1:n.*318_*319insGGAGGGACTGCCGTGGGAACAGGGCTAAA...
ENST00000366560.4:c.922_923insGGAGGGACTGCCGTGGGAACAGGGCTAAACGCTCCAAAAAACTACGACACGAAAGTCGCAAAATACATCTCTGAATTTACAGAACTTCCGTTCATCACCG MANE Select	ENSP00000355518.4:p.Ala308GlyfsTer25
ENST00000366560.3:c.922_923insGGAGGGACTGCCGTGGGAACAGGGCTAAACGCTCCAAAAAACTACGACACGAAAGTCGCAAAATACATCTCTGAATTTACAGAACTTCCGTTCATCACCG	ENSP00000355518.3:p.Ala308GlyfsTer25
NM_000143.3:c.922_923insGGAGGGACTGCCGTGGGAACAGGGCTAAACGCTCCAAAAAACTACGACACGAAAGTCGCAAAATACATCTCTGAATTTACAGAACTTCCGTTCATCACCG , LRG_504t1:c.922_923insGGAGGGACTGCCGTGGGAACAGGGCTAAACGCTCCAAAAAACTACGACACGAAAGTCGCAAAATACATCTCTGAATTTACAGAACTTCCGTTCATCACCG	NP_000134.2:p.Ala308GlyfsTer25
XM_011544132.1:c.694_695insGGAGGGACTGCCGTGGGAACAGGGCTAAACGCTCCAAAAAACTACGACACGAAAGTCGCAAAATACATCTCTGAATTTACAGAACTTCCGTTCATCACCG	XP_011542434.1:p.Ala232GlyfsTer25
XM_011544132.2:c.694_695insGGAGGGACTGCCGTGGGAACAGGGCTAAACGCTCCAAAAAACTACGACACGAAAGTCGCAAAATACATCTCTGAATTTACAGAACTTCCGTTCATCACCG	XP_011542434.1:p.Ala232GlyfsTer25
NM_000143.4:c.922_923insGGAGGGACTGCCGTGGGAACAGGGCTAAACGCTCCAAAAAACTACGACACGAAAGTCGCAAAATACATCTCTGAATTTACAGAACTTCCGTTCATCACCG MANE Select	NP_000134.2:p.Ala308GlyfsTer25