Canonical Allele Identifier: CA1845842224
Community Standard Title: NM_004629.2(FANCG):c.637_643dup (p.Gln215LeufsTer22)
Gene: FANCG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35077270_35077276dup , CM000671.2:g.35077270_35077276dup GRCh38
NC_000009.11:g.35077267_35077273dup , CM000671.1:g.35077267_35077273dup GRCh37
NC_000009.10:g.35067267_35067273dup NCBI36
NG_007312.1:g.7744_7750dup , LRG_499:g.7744_7750dup
NG_007887.1:g.470_476dup , LRG_657:g.470_476dup

Transcript Alleles

HGVS Amino-acid Change
NM_004629.2:c.637_643dup MANE Select NP_004620.1:p.Gln215LeufsTer22
ENST00000378643.8:c.637_643dup MANE Select ENSP00000367910.4:p.Gln215LeufsTer22
NM_004629.1:c.637_643dup , LRG_499t1:c.637_643dup NP_004620.1:p.Gln215LeufsTer22
ENST00000378643.7:c.637_643dup ENSP00000367910.3:p.Gln215LeufsTer22
ENST00000425676.5:c.*113_*119dup ENSP00000412793.1:n.*113_*119dup
ENST00000448890.1:c.637_643dup ENSP00000409607.1:p.Gln215LeufsTer?
ENST00000448890.2:c.637_643dup ENSP00000409607.2:p.Gln215LeufsTer22
ENST00000461149.2:n.1854_1860dup
ENST00000696700.1:n.1889_1895dup
ENST00000696701.1:n.741_747dup
ENST00000696702.1:c.*113_*119dup ENSP00000512821.1:n.*113_*119dup
ENST00000696703.1:c.*113_*119dup ENSP00000512822.1:n.*113_*119dup
ENST00000696706.1:n.700_706dup
ENST00000696707.1:n.854_860dup
ENST00000696708.1:c.*113_*119dup ENSP00000512825.1:n.*113_*119dup
ENST00000696709.1:n.1039_1045dup
ENST00000696710.1:c.637_643dup ENSP00000512826.1:p.Gln215LeufsTer22
ENST00000696711.1:n.1986_1992dup
ENST00000696712.1:n.724_730dup
ENST00000696713.1:c.637_643dup ENSP00000512827.1:p.Gln215LeufsTer22
ENST00000696714.1:n.1113_1119dup
ENST00000696715.1:c.637_643dup ENSP00000512828.1:p.Gln215LeufsTer22