Canonical Allele Identifier: CA1139657891

Gene: FANCD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10074589_10074590delinsTT , CM000665.2:g.10074589_10074590delinsTT	GRCh38
NC_000003.11:g.10116273_10116274delinsTT , CM000665.1:g.10116273_10116274delinsTT	GRCh37
NC_000003.10:g.10091273_10091274delinsTT	NCBI36
NG_007311.1:g.53161_53162delinsTT , LRG_306:g.53161_53162delinsTT

Transcript Alleles

HGVS	Amino-acid Change
NM_001018115.3:c.2775_2776delinsTT MANE Select	NP_001018125.1:p.Phe926Ter
ENST00000675286.1:c.2775_2776delinsTT MANE Select	ENSP00000502379.1:p.Phe926Ter
NM_001018115.1:c.2775_2776delinsTT , LRG_306t1:c.2775_2776delinsTT	NP_001018125.1:p.Phe926Ter
NM_001018115.2:c.2775_2776delinsTT	NP_001018125.1:p.Phe926Ter
NM_001319984.1:c.2775_2776delinsTT	NP_001306913.1:p.Phe926Ter
NM_001319984.2:c.2775_2776delinsTT	NP_001306913.1:p.Phe926Ter
NM_001374253.1:c.2664_2665delinsTT	NP_001361182.1:p.Phe889Ter
NM_001374254.1:c.2775_2776delinsTT	NP_001361183.1:p.Phe926Ter
NM_033084.3:c.2775_2776delinsTT , LRG_306t2:c.2775_2776delinsTT	NP_149075.2:p.Phe926Ter
NM_033084.4:c.2775_2776delinsTT	NP_149075.2:p.Phe926Ter
NM_033084.6:c.2775_2776delinsTT	NP_149075.2:p.Phe926Ter
ENST00000287647.7:c.2775_2776delinsTT	ENSP00000287647.3:p.Phe926Ter
ENST00000383807.5:c.2775_2776delinsTT	ENSP00000373318.1:p.Phe926Ter
ENST00000419585.5:c.2775_2776delinsTT	ENSP00000398754.1:p.Phe926Ter
ENST00000421731.5:c.1274_1275delinsTT
ENST00000676013.1:c.2664_2665delinsTT	ENSP00000501999.1:p.Phe889Ter
ENST00000681997.1:n.1859_1860delinsTT
ENST00000683263.1:n.1774_1775delinsTT
XM_005264946.2:c.2775_2776delinsTT	XP_005265003.1:p.Phe926Ter
XM_005264947.2:c.780_781delinsTT	XP_005265004.1:p.Phe261Ter
XM_006713021.2:c.2775_2776delinsTT	XP_006713084.1:p.Phe926Ter
XM_006713023.2:c.2775_2776delinsTT	XP_006713086.1:p.Phe926Ter
XM_006713024.2:c.2775_2776delinsTT	XP_006713087.1:p.Phe926Ter
XM_011533479.1:c.2775_2776delinsTT	XP_011531781.1:p.Phe926Ter
XM_011533480.1:c.1626_1627delinsTT	XP_011531782.1:p.Phe543Ter
XR_940391.1:n.2786_2787delinsTT