Canonical Allele Identifier: CA2682808967

Gene: DDC FIGNL1

Linked Data

• gnomAD v4: 7-50470144-ATCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50470148_50470150del , CM000669.2:g.50470148_50470150del	GRCh38
NC_000007.13:g.50537846_50537848del , CM000669.1:g.50537846_50537848del	GRCh37
NC_000007.12:g.50505340_50505342del	NCBI36
NG_008742.1:g.100310_100312del

Transcript Alleles

HGVS	Amino-acid change
ENST00000444124.7:c.1066_1068del (DDC) MANE Select	ENSP00000403644.2:p.Arg356del
ENST00000357936.9:c.1066_1068del (DDC)	ENSP00000350616.5:p.Arg356del
ENST00000426377.5:c.832_834del (DDC)	ENSP00000395069.1:p.Arg278del
ENST00000430300.5:c.708_710del (DDC)
ENST00000431062.5:c.787_789del (DDC)	ENSP00000399184.1:p.Arg263del
ENST00000444124.6:c.1066_1068del (DDC)	ENSP00000403644.2:p.Arg356del
ENST00000444733.5:c.*167_*169del (DDC)	ENSP00000393724.1:n.*167_*169del
ENST00000494914.1:n.222_224del (DDC)
ENST00000613602.3:c.-10-22850_-10-22848del (FIGNL1)	ENSP00000481751.1:n.-10-22850_-10-22848de...
ENST00000615193.4:c.787_789del (DDC)	ENSP00000484104.1:p.Arg263del
ENST00000617822.4:c.922_924del (DDC)	ENSP00000478385.1:p.Arg308del
ENST00000622873.4:c.952_954del (DDC)	ENSP00000479110.1:p.Arg318del
NM_000790.3:c.1066_1068del (DDC)	NP_000781.1:p.Arg356del
NM_001082971.1:c.1066_1068del (DDC)	NP_001076440.1:p.Arg356del
NM_001242886.1:c.952_954del (DDC)	NP_001229815.1:p.Arg318del
NM_001242887.1:c.922_924del (DDC)	NP_001229816.1:p.Arg308del
NM_001242888.1:c.832_834del (DDC)	NP_001229817.1:p.Arg278del
NM_001242889.1:c.787_789del (DDC)	NP_001229818.1:p.Arg263del
XM_005271745.3:c.952_954del (DDC)	XP_005271802.1:p.Arg318del
XM_011515161.1:c.715_717del (DDC)	XP_011513463.1:p.Arg239del
XM_005271745.4:c.952_954del (DDC)	XP_005271802.1:p.Arg318del
XM_011515161.2:c.1009_1011del (DDC)	XP_011513463.2:p.Arg337del
NM_001082971.2:c.1066_1068del (DDC) MANE Select	NP_001076440.2:p.Arg356del
NM_000790.4:c.1066_1068del (DDC)	NP_000781.2:p.Arg356del
NM_001242888.2:c.832_834del (DDC)	NP_001229817.2:p.Arg278del
NM_001242886.2:c.952_954del (DDC)	NP_001229815.2:p.Arg318del
NM_001242887.2:c.922_924del (DDC)	NP_001229816.2:p.Arg308del
NM_001242889.2:c.787_789del (DDC)	NP_001229818.2:p.Arg263del