Canonical Allele Identifier: CA5039804
Gene: FANCG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35075745del , CM000671.2:g.35075745del GRCh38
NC_000009.11:g.35075742del , CM000671.1:g.35075742del GRCh37
NC_000009.10:g.35065742del NCBI36
NG_007312.1:g.9277del , LRG_499:g.9277del
NG_007887.1:g.2003del , LRG_657:g.2003del

Transcript Alleles

HGVS Amino-acid Change
NM_004629.2:c.1158del MANE Select NP_004620.1:p.Ser387ProfsTer16
ENST00000378643.8:c.1158del MANE Select ENSP00000367910.4:p.Ser387ProfsTer16
NM_004629.1:c.1158del , LRG_499t1:c.1158del NP_004620.1:p.Ser387ProfsTer16
ENST00000378643.7:c.1158del ENSP00000367910.3:p.Ser387ProfsTer16
ENST00000425676.5:c.*634del ENSP00000412793.1:n.*634del
ENST00000448890.2:c.1158del ENSP00000409607.2:p.Ser387ProfsTer16
ENST00000461149.2:n.2361-11del
ENST00000476212.1:n.44+782del
ENST00000696700.1:n.2396-11del
ENST00000696701.1:n.1262del
ENST00000696702.1:c.*620-11del ENSP00000512821.1:n.*620-11del
ENST00000696703.1:c.*553-11del ENSP00000512822.1:n.*553-11del
ENST00000696706.1:n.1221del
ENST00000696707.1:n.1375del
ENST00000696708.1:c.*503del ENSP00000512825.1:n.*503del
ENST00000696709.1:n.1749del
ENST00000696710.1:c.1158del ENSP00000512826.1:p.Ser387ProfsTer16
ENST00000696711.1:n.3217del
ENST00000696712.1:n.1260-11del
ENST00000696713.1:c.1158del ENSP00000512827.1:p.Ser387ProfsTer16
ENST00000696714.1:n.1553-11del
ENST00000696715.1:c.1158del ENSP00000512828.1:p.Ser387ProfsTer16