Canonical Allele Identifier: CA1706648920

Gene: DDC FIGNL1

Linked Data

• dbSNP Id: rs2044120261
• gnomAD v3: 7-50529003-CCA-C
• gnomAD v4: 7-50529003-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50529008_50529009del , CM000669.2:g.50529008_50529009del	GRCh38
NC_000007.13:g.50596706_50596707del , CM000669.1:g.50596706_50596707del	GRCh37
NC_000007.12:g.50564200_50564201del	NCBI36
NG_008742.1:g.41452_41453del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000444124.7:c.570+203_570+204del (DDC) MANE Select	ENSP00000403644.2:n.570+203_570+204del
ENST00000357936.9:c.570+203_570+204del (DDC)	ENSP00000350616.5:n.570+203_570+204del
ENST00000380984.4:c.570+203_570+204del (DDC)	ENSP00000370371.4:n.570+203_570+204del
ENST00000426377.5:c.336+203_336+204del (DDC)	ENSP00000395069.1:n.336+203_336+204del
ENST00000430300.5:c.213-725_213-724del (DDC)
ENST00000431062.5:c.435+8855_435+8856del (DDC)	ENSP00000399184.1:n.435+8855_435+8856del
ENST00000444124.6:c.570+203_570+204del (DDC)	ENSP00000403644.2:n.570+203_570+204del
ENST00000444733.5:c.456+203_456+204del (DDC)	ENSP00000393724.1:n.456+203_456+204del
ENST00000489162.1:n.369+203_369+204del (DDC)
ENST00000613602.3:c.-11+13513_-11+13514del (FIGNL1)	ENSP00000481751.1:n.-11+13513_-11+13514del
ENST00000615193.4:c.435+8855_435+8856del (DDC)	ENSP00000484104.1:n.435+8855_435+8856del
ENST00000617822.4:c.570+203_570+204del (DDC)	ENSP00000478385.1:n.570+203_570+204del
ENST00000622873.4:c.456+203_456+204del (DDC)	ENSP00000479110.1:n.456+203_456+204del
NM_000790.3:c.570+203_570+204del (DDC)	NP_000781.1:n.570+203_570+204del
NM_001082971.1:c.570+203_570+204del (DDC)	NP_001076440.1:n.570+203_570+204del
NM_001242886.1:c.456+203_456+204del (DDC)	NP_001229815.1:n.456+203_456+204del
NM_001242887.1:c.570+203_570+204del (DDC)	NP_001229816.1:n.570+203_570+204del
NM_001242888.1:c.336+203_336+204del (DDC)	NP_001229817.1:n.336+203_336+204del
NM_001242889.1:c.435+8855_435+8856del (DDC)	NP_001229818.1:n.435+8855_435+8856del
NM_001242890.1:c.570+203_570+204del (DDC)	NP_001229819.1:n.570+203_570+204del
XM_005271745.3:c.456+203_456+204del (DDC)	XP_005271802.1:n.456+203_456+204del
XM_011515161.1:c.219+203_219+204del (DDC)	XP_011513463.1:n.219+203_219+204del
XM_005271745.4:c.456+203_456+204del (DDC)	XP_005271802.1:n.456+203_456+204del
XM_011515161.2:c.513+203_513+204del (DDC)	XP_011513463.2:n.513+203_513+204del
NM_001082971.2:c.570+203_570+204del (DDC) MANE Select	NP_001076440.2:n.570+203_570+204del
NM_000790.4:c.570+203_570+204del (DDC)	NP_000781.2:n.570+203_570+204del
NM_001242888.2:c.336+203_336+204del (DDC)	NP_001229817.2:n.336+203_336+204del
NM_001242890.2:c.570+203_570+204del (DDC)	NP_001229819.2:n.570+203_570+204del
NM_001242886.2:c.456+203_456+204del (DDC)	NP_001229815.2:n.456+203_456+204del
NM_001242887.2:c.570+203_570+204del (DDC)	NP_001229816.2:n.570+203_570+204del
NM_001242889.2:c.435+8855_435+8856del (DDC)	NP_001229818.2:n.435+8855_435+8856del