Canonical Allele Identifier: CA2580096977

Gene: CFD

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.859697_859698delinsTT , CM000681.2:g.859697_859698delinsTT	GRCh38
NC_000019.9:g.859697_859698delinsTT , CM000681.1:g.859697_859698delinsTT	GRCh37
NC_000019.8:g.810697_810698delinsTT	NCBI36
NG_007274.1:g.5033_5034delinsTT , LRG_46:g.5033_5034delinsTT

Transcript Alleles

HGVS	Amino-acid Change
NM_001928.4:c.8_9delinsTT MANE Select	NP_001919.2:p.Ser3Ile
ENST00000327726.11:c.8_9delinsTT MANE Select	ENSP00000332139.4:p.Ser3Ile
NM_001317335.1:c.8_9delinsTT	NP_001304264.1:p.Ser3Ile
NM_001317335.2:c.8_9delinsTT	NP_001304264.1:p.Ser3Ile
NM_001928.2:c.8_9delinsTT , LRG_46t1:c.8_9delinsTT	NP_001919.2:p.Ser3Ile
NM_001928.3:c.8_9delinsTT	NP_001919.2:p.Ser3Ile
ENST00000327726.10:c.8_9delinsTT	ENSP00000332139.4:p.Ser3Ile
ENST00000592860.2:c.8_9delinsTT	ENSP00000468253.1:p.Ser3Ile
ENST00000592860.3:c.8_9delinsTT	ENSP00000468253.1:p.Ser3Ile
ENST00000695942.1:c.-63+165_-63+166delinsTT	ENSP00000512275.1:n.-63+165_-63+166delinsTT
ENST00000695943.1:c.-63+181_-63+182delinsTT	ENSP00000512276.1:n.-63+181_-63+182delinsTT
ENST00000695944.1:c.-201_-200delinsTT	ENSP00000512277.1:n.-201_-200delinsTT
ENST00000695945.1:c.8_9delinsTT	ENSP00000512278.1:p.Ser3Ile