Canonical Allele Identifier: CA896100993
Gene: FANCD2 HGNC NCBI
FANCD2OS HGNC NCBI

Linked Data

dbSNP Id: rs1399603005

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10087113_10087116del , CM000665.2:g.10087113_10087116del GRCh38
NC_000003.11:g.10128797_10128800del , CM000665.1:g.10128797_10128800del GRCh37
NC_000003.10:g.10103797_10103800del NCBI36
NG_007311.1:g.65685_65688del , LRG_306:g.65685_65688del
NG_042053.1:g.26123_26126del

Transcript Alleles

HGVS Amino-acid Change
ENST00000681997.1:n.2420-21_2420-18del (FANCD2)
ENST00000683263.1:n.2335-21_2335-18del (FANCD2)
ENST00000683933.1:n.264-1336_264-1333del (FANCD2)
ENST00000675286.1:c.3336-21_3336-18del (FANCD2) MANE Select ENSP00000502379.1:n.3336-21_3336-18del
ENST00000676013.1:c.3225-21_3225-18del (FANCD2) ENSP00000501999.1:n.3225-21_3225-18del
ENST00000287647.7:c.3336-21_3336-18del (FANCD2) ENSP00000287647.3:n.3336-21_3336-18del
ENST00000383807.5:c.3336-21_3336-18del (FANCD2) ENSP00000373318.1:n.3336-21_3336-18del
ENST00000419585.5:c.3336-21_3336-18del (FANCD2) ENSP00000398754.1:n.3336-21_3336-18del
ENST00000421731.5:c.1835-21_1835-18del (FANCD2)
ENST00000431315.5:n.204+23_204+26del (FANCD2OS)
ENST00000436517.5:n.225+23_225+26del (FANCD2OS)
ENST00000524279.1:c.*44-5578_*44-5575del (FANCD2OS) ENSP00000429663.1:n.*44-5578_*44-5575del
NM_001018115.1:c.3336-21_3336-18del , LRG_306t1:c.3336-21_3336-18del (FANCD2) NP_001018125.1:n.3336-21_3336-18del
NM_033084.3:c.3336-21_3336-18del , LRG_306t2:c.3336-21_3336-18del (FANCD2) NP_149075.2:n.3336-21_3336-18del
NM_173472.1:c.*44-5578_*44-5575del (FANCD2OS) NP_775743.1:n.*44-5578_*44-5575del
XM_005264946.2:c.3336-21_3336-18del (FANCD2) XP_005265003.1:n.3336-21_3336-18del
XM_005264947.2:c.1341-21_1341-18del (FANCD2) XP_005265004.1:n.1341-21_1341-18del
XM_006713021.2:c.3336-21_3336-18del (FANCD2) XP_006713084.1:n.3336-21_3336-18del
XM_006713023.2:c.3336-21_3336-18del (FANCD2) XP_006713086.1:n.3336-21_3336-18del
XM_006713024.2:c.3219-21_3219-18del (FANCD2) XP_006713087.1:n.3219-21_3219-18del
XM_011533479.1:c.3336-21_3336-18del (FANCD2) XP_011531781.1:n.3336-21_3336-18del
XM_011533480.1:c.2187-21_2187-18del (FANCD2) XP_011531782.1:n.2187-21_2187-18del
NM_001018115.2:c.3336-21_3336-18del (FANCD2) NP_001018125.1:n.3336-21_3336-18del
NM_001319984.1:c.3336-21_3336-18del (FANCD2) NP_001306913.1:n.3336-21_3336-18del
NM_033084.4:c.3336-21_3336-18del (FANCD2) NP_149075.2:n.3336-21_3336-18del
NM_001018115.3:c.3336-21_3336-18del (FANCD2) MANE Select NP_001018125.1:n.3336-21_3336-18del
NM_001319984.2:c.3336-21_3336-18del (FANCD2) NP_001306913.1:n.3336-21_3336-18del
NM_001374253.1:c.3225-21_3225-18del (FANCD2) NP_001361182.1:n.3225-21_3225-18del
NM_001374254.1:c.3336-21_3336-18del (FANCD2) NP_001361183.1:n.3336-21_3336-18del
NM_033084.6:c.3336-21_3336-18del (FANCD2) NP_149075.2:n.3336-21_3336-18del
NM_173472.2:c.*44-5578_*44-5575del (FANCD2OS) NP_775743.1:n.*44-5578_*44-5575del