Canonical Allele Identifier: CA8251529

Gene: FANCA

Linked Data

• dbSNP Id: rs1567614240
• ExAC: 16:89831176 GGGACGTGGCATGATGCAGGGGAAGGAACGGTCACCTACGTGCTGCTGTTCTTGCCCGAGGAGCACACACAAACCCTAGACTCA / G
• gnomAD v2: 16-89831176-GGGACGTGGCATGATGCAGGGGAAGGAACGGTCACCTACGTGCTGCTGTTCTTGCCCGAGGAGCACACACAAACCCTAGACTCA-G
• gnomAD v4: 16-89764768-GGGACGTGGCATGATGCAGGGGAAGGAACGGTCACCTACGTGCTGCTGTTCTTGCCCGAGGAGCACACACAAACCCTAGACTCA-G
• MyVariant Identifiers: chr16:g.89831177_89831259del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89764788_89764870del , CM000678.2:g.89764788_89764870del	GRCh38
NC_000016.9:g.89831196_89831278del , CM000678.1:g.89831196_89831278del	GRCh37
NC_000016.8:g.88358697_88358779del	NCBI36
NG_011706.1:g.56807_56889del , LRG_495:g.56807_56889del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*1272+39_*1272+121del	ENSP00000512522.1:n.*1272+39_*1272+121del
ENST00000564475.6:c.2778+39_2778+121del	ENSP00000454977.2:n.2778+39_2778+121del
ENST00000567510.2:c.1477+39_1477+121del	ENSP00000455969.1:n.1477+39_1477+121del
ENST00000568369.6:c.2778+39_2778+121del	ENSP00000456829.1:n.2778+39_2778+121del
ENST00000696274.1:n.2739+39_2739+121del
ENST00000696275.1:c.*2013+39_*2013+121del	ENSP00000512517.1:n.*2013+39_*2013+121del
ENST00000696276.1:n.2821+39_2821+121del
ENST00000696286.1:c.2778+39_2778+121del	ENSP00000512523.1:n.2778+39_2778+121del
ENST00000696287.1:c.2778+39_2778+121del	ENSP00000512524.1:n.2778+39_2778+121del
ENST00000696291.1:c.*2498+39_*2498+121del	ENSP00000512530.1:n.*2498+39_*2498+121del
ENST00000389301.8:c.2778+39_2778+121del MANE Select	ENSP00000373952.3:n.2778+39_2778+121del
ENST00000305699.15:n.150+39_150+121del
ENST00000389301.7:c.2778+39_2778+121del	ENSP00000373952.3:n.2778+39_2778+121del
ENST00000561660.1:c.155+39_155+121del
ENST00000563318.1:c.184+39_184+121del
ENST00000563510.5:c.97_141+38del
ENST00000567988.5:c.115+39_115+121del
ENST00000568369.5:c.2778+39_2778+121del	ENSP00000456829.1:n.2778+39_2778+121del
NM_000135.2:c.2778+39_2778+121del , LRG_495t1:c.2778+39_2778+121del	NP_000126.2:n.2778+39_2778+121del
NM_001286167.1:c.2778+39_2778+121del	NP_001273096.1:n.2778+39_2778+121del
XM_005256294.3:c.2778+39_2778+121del	XP_005256351.1:n.2778+39_2778+121del
XM_011522945.1:c.2778+39_2778+121del	XP_011521247.1:n.2778+39_2778+121del
XM_011522946.1:c.1755+39_1755+121del	XP_011521248.1:n.1755+39_1755+121del
XM_011522947.1:c.1755+39_1755+121del	XP_011521249.1:n.1755+39_1755+121del
XR_933244.1:n.2821+39_2821+121del
XR_933245.1:n.2821+39_2821+121del
XR_933246.1:n.2821+39_2821+121del
NM_000135.3:c.2778+39_2778+121del	NP_000126.2:n.2778+39_2778+121del
NM_001286167.2:c.2778+39_2778+121del	NP_001273096.1:n.2778+39_2778+121del
XM_005256294.4:c.2778+39_2778+121del	XP_005256351.1:n.2778+39_2778+121del
XM_011522945.2:c.2778+39_2778+121del	XP_011521247.1:n.2778+39_2778+121del
XM_011522946.3:c.1755+39_1755+121del	XP_011521248.1:n.1755+39_1755+121del
XM_011522947.2:c.1755+39_1755+121del	XP_011521249.1:n.1755+39_1755+121del
XM_017023044.2:c.2778+39_2778+121del	XP_016878533.1:n.2778+39_2778+121del
XM_017023045.1:c.2778+39_2778+121del	XP_016878534.1:n.2778+39_2778+121del
XM_024450189.1:c.1755+39_1755+121del	XP_024305957.1:n.1755+39_1755+121del
XR_001751866.1:n.2821+39_2821+121del
XR_933244.2:n.2821+39_2821+121del
XR_933245.2:n.2821+39_2821+121del
XR_933247.2:n.2950+39_2950+121del
NM_000135.4:c.2778+39_2778+121del MANE Select	NP_000126.2:n.2778+39_2778+121del
NM_001286167.3:c.2778+39_2778+121del	NP_001273096.1:n.2778+39_2778+121del