Canonical Allele Identifier: CA912996753

Gene: FANCA

Linked Data

• MyVariant Identifiers: chr16:g.89831306_89831313del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89764898_89764905del , CM000678.2:g.89764898_89764905del	GRCh38
NC_000016.9:g.89831306_89831313del , CM000678.1:g.89831306_89831313del	GRCh37
NC_000016.8:g.88358807_88358814del	NCBI36
NG_011706.1:g.56754_56761del , LRG_495:g.56754_56761del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*1258_*1265del	ENSP00000512522.1:n.*1258_*1265del
ENST00000564475.6:c.2764_2771del	ENSP00000454977.2:p.Glu922CysfsTer18
ENST00000567510.2:c.1463_1470del	ENSP00000455969.1:n.1463_1470del
ENST00000568369.6:c.2764_2771del	ENSP00000456829.1:p.Glu922CysfsTer18
ENST00000696274.1:n.2725_2732del
ENST00000696275.1:c.*1999_*2006del	ENSP00000512517.1:n.*1999_*2006del
ENST00000696276.1:n.2807_2814del
ENST00000696286.1:c.2764_2771del	ENSP00000512523.1:p.Glu922CysfsTer18
ENST00000696287.1:c.2764_2771del	ENSP00000512524.1:p.Glu922CysfsTer18
ENST00000696291.1:c.*2484_*2491del	ENSP00000512530.1:n.*2484_*2491del
ENST00000389301.8:c.2764_2771del MANE Select	ENSP00000373952.3:p.Glu922CysfsTer18
ENST00000305699.15:n.136_143del
ENST00000389301.7:c.2764_2771del	ENSP00000373952.3:p.Glu922CysfsTer18
ENST00000561660.1:c.141_148del
ENST00000563318.1:c.170_177del
ENST00000563510.5:c.44_51del
ENST00000567988.5:c.101_108del
ENST00000568369.5:c.2764_2771del	ENSP00000456829.1:p.Glu922CysfsTer18
NM_000135.2:c.2764_2771del , LRG_495t1:c.2764_2771del	NP_000126.2:p.Glu922CysfsTer18
NM_001286167.1:c.2764_2771del	NP_001273096.1:p.Glu922CysfsTer18
XM_005256294.3:c.2764_2771del	XP_005256351.1:p.Glu922CysfsTer18
XM_011522945.1:c.2764_2771del	XP_011521247.1:p.Glu922CysfsTer18
XM_011522946.1:c.1741_1748del	XP_011521248.1:p.Glu581CysfsTer18
XM_011522947.1:c.1741_1748del	XP_011521249.1:p.Glu581CysfsTer18
XR_933244.1:n.2807_2814del
XR_933245.1:n.2807_2814del
XR_933246.1:n.2807_2814del
NM_000135.3:c.2764_2771del	NP_000126.2:p.Glu922CysfsTer18
NM_001286167.2:c.2764_2771del	NP_001273096.1:p.Glu922CysfsTer18
XM_005256294.4:c.2764_2771del	XP_005256351.1:p.Glu922CysfsTer18
XM_011522945.2:c.2764_2771del	XP_011521247.1:p.Glu922CysfsTer18
XM_011522946.3:c.1741_1748del	XP_011521248.1:p.Glu581CysfsTer18
XM_011522947.2:c.1741_1748del	XP_011521249.1:p.Glu581CysfsTer18
XM_017023044.2:c.2764_2771del	XP_016878533.1:p.Glu922CysfsTer18
XM_017023045.1:c.2764_2771del	XP_016878534.1:p.Glu922CysfsTer18
XM_024450189.1:c.1741_1748del	XP_024305957.1:p.Glu581CysfsTer18
XR_001751866.1:n.2807_2814del
XR_933244.2:n.2807_2814del
XR_933245.2:n.2807_2814del
XR_933247.2:n.2936_2943del
NM_000135.4:c.2764_2771del MANE Select	NP_000126.2:p.Glu922CysfsTer18
NM_001286167.3:c.2764_2771del	NP_001273096.1:p.Glu922CysfsTer18