Canonical Allele Identifier: CA587568835
Community Standard Title: NM_004629.2(FANCG):c.1653del (p.His553ThrfsTer6)
Gene: FANCG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35074478del , CM000671.2:g.35074478del GRCh38
NC_000009.11:g.35074475del , CM000671.1:g.35074475del GRCh37
NC_000009.10:g.35064475del NCBI36
NG_007312.1:g.10539del , LRG_499:g.10539del
NG_007887.1:g.3265del , LRG_657:g.3265del

Transcript Alleles

HGVS Amino-acid Change
NM_004629.2:c.1653del MANE Select NP_004620.1:p.His553ThrfsTer6
ENST00000378643.8:c.1653del MANE Select ENSP00000367910.4:p.His553ThrfsTer6
NM_004629.1:c.1653del , LRG_499t1:c.1653del NP_004620.1:p.His553ThrfsTer6
ENST00000378643.7:c.1653del ENSP00000367910.3:p.His553ThrfsTer6
ENST00000425676.5:c.*1129del ENSP00000412793.1:n.*1129del
ENST00000448890.2:c.1653del ENSP00000409607.2:p.His553ThrfsTer6
ENST00000461149.2:n.3473del
ENST00000476212.1:n.45-46del
ENST00000696700.1:n.3508del
ENST00000696701.1:n.1953del
ENST00000696702.1:c.*1104del ENSP00000512821.1:n.*1104del
ENST00000696703.1:c.*1037del ENSP00000512822.1:n.*1037del
ENST00000696706.1:n.1716del
ENST00000696707.1:n.1870del
ENST00000696708.1:c.*998del ENSP00000512825.1:n.*998del
ENST00000696709.1:n.2872del
ENST00000696710.1:c.1647del ENSP00000512826.1:p.His551ThrfsTer6
ENST00000696711.1:n.4340del
ENST00000696712.1:n.2372del
ENST00000696713.1:c.1637-16del ENSP00000512827.1:n.1637-16del
ENST00000696714.1:n.2665del
ENST00000696715.1:c.1653del ENSP00000512828.1:p.His553ThrfsTer6