Canonical Allele Identifier: CA2667222054

Gene: ILDR1

Linked Data

• gnomAD v4: 3-121993085-G-GTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993087_121993089dup , CM000665.2:g.121993087_121993089dup	GRCh38
NC_000003.11:g.121711934_121711936dup , CM000665.1:g.121711934_121711936dup	GRCh37
NC_000003.10:g.123194624_123194626dup	NCBI36
NG_031870.1:g.34193_34195dup
NG_031870.2:g.72467_72469dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1599+62_1599+64dup MANE Select	ENSP00000345667.5:n.1599+62_1599+64dup
ENST00000460554.2:n.1549+62_1549+64dup
ENST00000642615.1:c.*782+62_*782+64dup	ENSP00000495499.1:n.*782+62_*782+64dup
ENST00000273691.7:c.1467+62_1467+64dup	ENSP00000273691.3:n.1467+62_1467+64dup
ENST00000344209.9:c.1599+62_1599+64dup	ENSP00000345667.5:n.1599+62_1599+64dup
ENST00000393631.5:c.1332+62_1332+64dup	ENSP00000377251.1:n.1332+62_1332+64dup
ENST00000462014.1:c.1503+62_1503+64dup	ENSP00000419414.1:n.1503+62_1503+64dup
NM_001199799.1:c.1599+62_1599+64dup	NP_001186728.1:n.1599+62_1599+64dup
NM_001199800.1:c.1332+62_1332+64dup	NP_001186729.1:n.1332+62_1332+64dup
NM_175924.3:c.1467+62_1467+64dup	NP_787120.1:n.1467+62_1467+64dup
XM_005247389.3:c.1503+62_1503+64dup	XP_005247446.1:n.1503+62_1503+64dup
XM_011512738.1:c.1558+103_1558+105dup	XP_011511040.1:n.1558+103_1558+105dup
XM_011512739.1:c.1062+62_1062+64dup	XP_011511041.1:n.1062+62_1062+64dup
XM_005247389.4:c.1503+62_1503+64dup	XP_005247446.1:n.1503+62_1503+64dup
XM_011512738.2:c.1558+103_1558+105dup	XP_011511040.1:n.1558+103_1558+105dup
XM_011512739.2:c.1062+62_1062+64dup	XP_011511041.1:n.1062+62_1062+64dup
NM_001199799.2:c.1599+62_1599+64dup MANE Select	NP_001186728.1:n.1599+62_1599+64dup
NM_001199800.2:c.1332+62_1332+64dup	NP_001186729.1:n.1332+62_1332+64dup
NM_175924.4:c.1467+62_1467+64dup	NP_787120.1:n.1467+62_1467+64dup