Canonical Allele Identifier: CA2667222097

Gene: ILDR1

Linked Data

• gnomAD v4: 3-121993222-C-CGGCTTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993223_121993229dup , CM000665.2:g.121993223_121993229dup	GRCh38
NC_000003.11:g.121712070_121712076dup , CM000665.1:g.121712070_121712076dup	GRCh37
NC_000003.10:g.123194760_123194766dup	NCBI36
NG_031870.1:g.34052_34058dup
NG_031870.2:g.72326_72332dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1520_1526dup MANE Select	ENSP00000345667.5:p.Pro510GlufsTer4
ENST00000460554.2:n.1470_1476dup
ENST00000642615.1:c.*703_*709dup	ENSP00000495499.1:n.*703_*709dup
ENST00000273691.7:c.1388_1394dup	ENSP00000273691.3:p.Pro466GlufsTer4
ENST00000344209.9:c.1520_1526dup	ENSP00000345667.5:p.Pro510GlufsTer4
ENST00000393631.5:c.1253_1259dup	ENSP00000377251.1:p.Pro421GlufsTer4
ENST00000460554.1:n.1622_1628dup
ENST00000462014.1:c.1424_1430dup	ENSP00000419414.1:p.Pro478GlufsTer4
NM_001199799.1:c.1520_1526dup	NP_001186728.1:p.Pro510GlufsTer4
NM_001199800.1:c.1253_1259dup	NP_001186729.1:p.Pro421GlufsTer4
NM_175924.3:c.1388_1394dup	NP_787120.1:p.Pro466GlufsTer4
XM_005247389.3:c.1424_1430dup	XP_005247446.1:p.Pro478GlufsTer4
XM_011512738.1:c.1520_1526dup	XP_011511040.1:p.Pro510GlufsTer4
XM_011512739.1:c.983_989dup	XP_011511041.1:p.Pro331GlufsTer4
XM_005247389.4:c.1424_1430dup	XP_005247446.1:p.Pro478GlufsTer4
XM_011512738.2:c.1520_1526dup	XP_011511040.1:p.Pro510GlufsTer4
XM_011512739.2:c.983_989dup	XP_011511041.1:p.Pro331GlufsTer4
NM_001199799.2:c.1520_1526dup MANE Select	NP_001186728.1:p.Pro510GlufsTer4
NM_001199800.2:c.1253_1259dup	NP_001186729.1:p.Pro421GlufsTer4
NM_175924.4:c.1388_1394dup	NP_787120.1:p.Pro466GlufsTer4