Canonical Allele Identifier: CA1139664980

Gene: FANCA

Linked Data

• ClinVar Variation Id: 974077
• ClinVar RCV Id: RCV001256317

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89807755_89816658del , CM000678.2:g.89807755_89816658del	GRCh38
NC_000016.9:g.89874163_89883066del , CM000678.1:g.89874163_89883066del	GRCh37
NC_000016.8:g.88401664_88410567del	NCBI36
NG_011706.1:g.5002_13905del , LRG_495:g.5002_13905del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000564475.6:c.-41_596+541del
ENST00000567205.2:c.-41_596+541del
ENST00000567284.7:n.3_639+541del
ENST00000567621.6:c.-41_596+541del
ENST00000696275.1:c.-41_596+541del
ENST00000696276.1:n.3_639+541del
ENST00000696277.1:c.-41_596+541del
ENST00000696287.1:c.-41_596+541del
ENST00000696291.1:c.-41_523-2361del
XM_005256294.3:c.-41_596+541del
XM_011522945.1:c.-41_596+541del
XM_011522948.1:c.-41_596+541del
XR_933244.1:n.3_639+541del
XR_933245.1:n.3_639+541del
XR_933246.1:n.3_639+541del
XR_933247.1:n.3_639+541del
NM_000135.3:c.-41_596+541del
NM_001018112.2:c.-41_596+541del
NM_001286167.2:c.-41_596+541del
NM_001351830.1:c.-41_500+541del
XM_005256294.4:c.-41_596+541del
XM_011522945.2:c.-41_596+541del
XM_011522948.2:c.-41_596+541del
XM_017023044.2:c.-41_596+541del
XM_017023045.1:c.-41_596+541del
XM_017023046.1:c.-41_596+541del
XR_001751866.1:n.3_639+541del
XR_001751867.1:n.3_639+541del
XR_001751868.2:n.3_639+541del
XR_002957793.1:n.3_639+541del
XR_933244.2:n.3_639+541del
XR_933245.2:n.3_639+541del
XR_933247.2:n.3_639+541del