Canonical Allele Identifier: CA2554027986

Gene: DDC FIGNL1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50463360_50463374del , CM000669.2:g.50463360_50463374del	GRCh38
NC_000007.13:g.50531058_50531072del , CM000669.1:g.50531058_50531072del	GRCh37
NC_000007.12:g.50498552_50498566del	NCBI36
NG_008742.1:g.107086_107100del

Transcript Alleles

HGVS	Amino-acid Change
NM_001082971.2:c.1303_1317del (DDC) MANE Select	NP_001076440.2:p.Leu435_His439del
ENST00000444124.7:c.1303_1317del (DDC) MANE Select	ENSP00000403644.2:p.Leu435_His439del
NM_000790.3:c.1303_1317del (DDC)	NP_000781.1:p.Leu435_His439del
NM_000790.4:c.1303_1317del (DDC)	NP_000781.2:p.Leu435_His439del
NM_001082971.1:c.1303_1317del (DDC)	NP_001076440.1:p.Leu435_His439del
NM_001242886.1:c.1189_1203del (DDC)	NP_001229815.1:p.Leu397_His401del
NM_001242886.2:c.1189_1203del (DDC)	NP_001229815.2:p.Leu397_His401del
NM_001242887.1:c.1159_1173del (DDC)	NP_001229816.1:p.Leu387_His391del
NM_001242887.2:c.1159_1173del (DDC)	NP_001229816.2:p.Leu387_His391del
NM_001242888.1:c.1069_1083del (DDC)	NP_001229817.1:p.Leu357_His361del
NM_001242888.2:c.1069_1083del (DDC)	NP_001229817.2:p.Leu357_His361del
NM_001242889.1:c.1024_1038del (DDC)	NP_001229818.1:p.Leu342_His346del
NM_001242889.2:c.1024_1038del (DDC)	NP_001229818.2:p.Leu342_His346del
ENST00000357936.9:c.1303_1317del (DDC)	ENSP00000350616.5:p.Leu435_His439del
ENST00000426377.5:c.1069_1083del (DDC)	ENSP00000395069.1:p.Leu357_His361del
ENST00000430300.5:c.945_959del (DDC)
ENST00000431062.5:c.1024_1038del (DDC)	ENSP00000399184.1:p.Leu342_His346del
ENST00000444124.6:c.1303_1317del (DDC)	ENSP00000403644.2:p.Leu435_His439del
ENST00000444733.5:c.*404_*418del (DDC)	ENSP00000393724.1:n.*404_*418del
ENST00000494914.1:n.459_473del (DDC)
ENST00000613602.3:c.-10-16074_-10-16060del (FIGNL1)	ENSP00000481751.1:n.-10-16074_-10-16060del
ENST00000615193.4:c.1024_1038del (DDC)	ENSP00000484104.1:p.Leu342_His346del
ENST00000617822.4:c.1159_1173del (DDC)	ENSP00000478385.1:p.Leu387_His391del
ENST00000622873.4:c.1189_1203del (DDC)	ENSP00000479110.1:p.Leu397_His401del
XM_005271745.3:c.1189_1203del (DDC)	XP_005271802.1:p.Leu397_His401del
XM_005271745.4:c.1189_1203del (DDC)	XP_005271802.1:p.Leu397_His401del
XM_011515161.1:c.952_966del (DDC)	XP_011513463.1:p.Leu318_His322del
XM_011515161.2:c.1246_1260del (DDC)	XP_011513463.2:p.Leu416_His420del