Canonical Allele Identifier: CA2241898385

Gene: FANCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89752342_89752351delinsCATTAGTCAA , CM000678.2:g.89752342_89752351delinsCATTAGTCAA	GRCh38
NC_000016.9:g.89818750_89818759delinsCATTAGTCAA , CM000678.1:g.89818750_89818759delinsCATTAGTCAA	GRCh37
NC_000016.8:g.88346251_88346260delinsCATTAGTCAA	NCBI36
NG_011706.1:g.69307_69316delinsTTGACTAATG , LRG_495:g.69307_69316delinsTTGACTAATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561667.2:c.*1460-129_*1460-120delinsTTGACTAATG	ENSP00000512522.1:n.*1460-129_*1460-120delinsTTGACTAATG
ENST00000564475.6:c.2982-129_2982-120delinsTTGACTAATG	ENSP00000454977.2:n.2982-129_2982-120delinsTTGACTAATG
ENST00000567510.2:c.1552-129_1552-120delinsTTGACTAATG	ENSP00000455969.1:n.1552-129_1552-120delinsTTGACTAATG
ENST00000568369.6:c.2982-129_2982-120delinsTTGACTAATG	ENSP00000456829.1:n.2982-129_2982-120delinsTTGACTAATG
ENST00000696274.1:n.2943-129_2943-120delinsTTGACTAATG
ENST00000696275.1:c.*2217-129_*2217-120delinsTTGACTAATG	ENSP00000512517.1:n.*2217-129_*2217-120delinsTTGACTAATG
ENST00000696286.1:c.2982-129_2982-120delinsTTGACTAATG	ENSP00000512523.1:n.2982-129_2982-120delinsTTGACTAATG
ENST00000696287.1:c.2853-129_2853-120delinsTTGACTAATG	ENSP00000512524.1:n.2853-129_2853-120delinsTTGACTAATG
ENST00000696291.1:c.*2499-2449_*2499-2440delinsTTGACTAATG	ENSP00000512530.1:n.*2499-2449_*2499-2440delinsTTGACTAATG
ENST00000389301.8:c.2982-129_2982-120delinsTTGACTAATG MANE Select	ENSP00000373952.3:n.2982-129_2982-120delinsTTGACTAATG
ENST00000305699.15:n.225-129_225-120delinsTTGACTAATG
ENST00000389301.7:c.2982-129_2982-120delinsTTGACTAATG	ENSP00000373952.3:n.2982-129_2982-120delinsTTGACTAATG
ENST00000561660.1:c.359-129_359-120delinsTTGACTAATG
ENST00000563318.1:c.544-129_544-120delinsTTGACTAATG
ENST00000563510.5:c.372-129_372-120delinsTTGACTAATG
ENST00000567988.5:c.319-2449_319-2440delinsTTGACTAATG
ENST00000568369.5:c.2982-129_2982-120delinsTTGACTAATG	ENSP00000456829.1:n.2982-129_2982-120delinsTTGACTAATG
NM_000135.2:c.2982-129_2982-120delinsTTGACTAATG , LRG_495t1:c.2982-129_2982-120delinsTTGACTAATG	NP_000126.2:n.2982-129_2982-120delinsTTGACTAATG
NM_001286167.1:c.2982-129_2982-120delinsTTGACTAATG	NP_001273096.1:n.2982-129_2982-120delinsTTGACTAATG
XM_005256294.3:c.2982-129_2982-120delinsTTGACTAATG	XP_005256351.1:n.2982-129_2982-120delinsTTGACTAATG
XM_011522945.1:c.2853-129_2853-120delinsTTGACTAATG	XP_011521247.1:n.2853-129_2853-120delinsTTGACTAATG
XM_011522946.1:c.1959-129_1959-120delinsTTGACTAATG	XP_011521248.1:n.1959-129_1959-120delinsTTGACTAATG
XM_011522947.1:c.1959-129_1959-120delinsTTGACTAATG	XP_011521249.1:n.1959-129_1959-120delinsTTGACTAATG
XR_933244.1:n.3025-129_3025-120delinsTTGACTAATG
XR_933245.1:n.3025-129_3025-120delinsTTGACTAATG
XR_933246.1:n.3025-129_3025-120delinsTTGACTAATG
NM_000135.3:c.2982-129_2982-120delinsTTGACTAATG	NP_000126.2:n.2982-129_2982-120delinsTTGACTAATG
NM_001286167.2:c.2982-129_2982-120delinsTTGACTAATG	NP_001273096.1:n.2982-129_2982-120delinsTTGACTAATG
XM_005256294.4:c.2982-129_2982-120delinsTTGACTAATG	XP_005256351.1:n.2982-129_2982-120delinsTTGACTAATG
XM_011522945.2:c.2853-129_2853-120delinsTTGACTAATG	XP_011521247.1:n.2853-129_2853-120delinsTTGACTAATG
XM_011522946.3:c.1959-129_1959-120delinsTTGACTAATG	XP_011521248.1:n.1959-129_1959-120delinsTTGACTAATG
XM_011522947.2:c.1959-129_1959-120delinsTTGACTAATG	XP_011521249.1:n.1959-129_1959-120delinsTTGACTAATG
XM_017023044.2:c.2853-129_2853-120delinsTTGACTAATG	XP_016878533.1:n.2853-129_2853-120delinsTTGACTAATG
XM_024450189.1:c.1959-129_1959-120delinsTTGACTAATG	XP_024305957.1:n.1959-129_1959-120delinsTTGACTAATG
XR_001751866.1:n.3025-129_3025-120delinsTTGACTAATG
XR_933244.2:n.3025-129_3025-120delinsTTGACTAATG
XR_933245.2:n.3025-129_3025-120delinsTTGACTAATG
NM_000135.4:c.2982-129_2982-120delinsTTGACTAATG MANE Select	NP_000126.2:n.2982-129_2982-120delinsTTGACTAATG
NM_001286167.3:c.2982-129_2982-120delinsTTGACTAATG	NP_001273096.1:n.2982-129_2982-120delinsTTGACTAATG