Canonical Allele Identifier: CA2667222043

Gene: ILDR1

Linked Data

• gnomAD v4: 3-121993071-C-CTG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993075_121993076dup , CM000665.2:g.121993075_121993076dup	GRCh38
NC_000003.11:g.121711922_121711923dup , CM000665.1:g.121711922_121711923dup	GRCh37
NC_000003.10:g.123194612_123194613dup	NCBI36
NG_031870.1:g.34208_34209dup
NG_031870.2:g.72482_72483dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1599+77_1599+78dup MANE Select	ENSP00000345667.5:n.1599+77_1599+78dup
ENST00000460554.2:n.1549+77_1549+78dup
ENST00000642615.1:c.*782+77_*782+78dup	ENSP00000495499.1:n.*782+77_*782+78dup
ENST00000273691.7:c.1467+77_1467+78dup	ENSP00000273691.3:n.1467+77_1467+78dup
ENST00000344209.9:c.1599+77_1599+78dup	ENSP00000345667.5:n.1599+77_1599+78dup
ENST00000393631.5:c.1332+77_1332+78dup	ENSP00000377251.1:n.1332+77_1332+78dup
ENST00000462014.1:c.1503+77_1503+78dup	ENSP00000419414.1:n.1503+77_1503+78dup
NM_001199799.1:c.1599+77_1599+78dup	NP_001186728.1:n.1599+77_1599+78dup
NM_001199800.1:c.1332+77_1332+78dup	NP_001186729.1:n.1332+77_1332+78dup
NM_175924.3:c.1467+77_1467+78dup	NP_787120.1:n.1467+77_1467+78dup
XM_005247389.3:c.1503+77_1503+78dup	XP_005247446.1:n.1503+77_1503+78dup
XM_011512738.1:c.1558+118_1558+119dup	XP_011511040.1:n.1558+118_1558+119dup
XM_011512739.1:c.1062+77_1062+78dup	XP_011511041.1:n.1062+77_1062+78dup
XM_005247389.4:c.1503+77_1503+78dup	XP_005247446.1:n.1503+77_1503+78dup
XM_011512738.2:c.1558+118_1558+119dup	XP_011511040.1:n.1558+118_1558+119dup
XM_011512739.2:c.1062+77_1062+78dup	XP_011511041.1:n.1062+77_1062+78dup
NM_001199799.2:c.1599+77_1599+78dup MANE Select	NP_001186728.1:n.1599+77_1599+78dup
NM_001199800.2:c.1332+77_1332+78dup	NP_001186729.1:n.1332+77_1332+78dup
NM_175924.4:c.1467+77_1467+78dup	NP_787120.1:n.1467+77_1467+78dup