Canonical Allele Identifier: CA1052937569

Gene: ILDR1

Linked Data

• gnomAD v3: 3-121993115-C-CTTTTTTTTTTA
• gnomAD v4: 3-121993115-C-CTTTTTTTTTTA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993115_121993116insTTTTTTTTTTA , CM000665.2:g.121993115_121993116insTTTTTTTTTTA	GRCh38
NC_000003.11:g.121711962_121711963insTTTTTTTTTTA , CM000665.1:g.121711962_121711963insTTTTTTTTTTA	GRCh37
NC_000003.10:g.123194652_123194653insTTTTTTTTTTA	NCBI36
NG_031870.1:g.34165_34166insTAAAAAAAAAA
NG_031870.2:g.72439_72440insTAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1599+34_1599+35insTAAAAAAAAAA MANE Select	ENSP00000345667.5:n.1599+34_1599+35insTAAAAAAAAAA
ENST00000460554.2:n.1549+34_1549+35insTAAAAAAAAAA
ENST00000642615.1:c.*782+34_*782+35insTAAAAAAAAAA	ENSP00000495499.1:n.*782+34_*782+35insTAAAAAAAAAA
ENST00000273691.7:c.1467+34_1467+35insTAAAAAAAAAA	ENSP00000273691.3:n.1467+34_1467+35insTAAAAAAAAAA
ENST00000344209.9:c.1599+34_1599+35insTAAAAAAAAAA	ENSP00000345667.5:n.1599+34_1599+35insTAAAAAAAAAA
ENST00000393631.5:c.1332+34_1332+35insTAAAAAAAAAA	ENSP00000377251.1:n.1332+34_1332+35insTAAAAAAAAAA
ENST00000462014.1:c.1503+34_1503+35insTAAAAAAAAAA	ENSP00000419414.1:n.1503+34_1503+35insTAAAAAAAAAA
NM_001199799.1:c.1599+34_1599+35insTAAAAAAAAAA	NP_001186728.1:n.1599+34_1599+35insTAAAAAAAAAA
NM_001199800.1:c.1332+34_1332+35insTAAAAAAAAAA	NP_001186729.1:n.1332+34_1332+35insTAAAAAAAAAA
NM_175924.3:c.1467+34_1467+35insTAAAAAAAAAA	NP_787120.1:n.1467+34_1467+35insTAAAAAAAAAA
XM_005247389.3:c.1503+34_1503+35insTAAAAAAAAAA	XP_005247446.1:n.1503+34_1503+35insTAAAAAAAAAA
XM_011512738.1:c.1558+75_1558+76insTAAAAAAAAAA	XP_011511040.1:n.1558+75_1558+76insTAAAAAAAAAA
XM_011512739.1:c.1062+34_1062+35insTAAAAAAAAAA	XP_011511041.1:n.1062+34_1062+35insTAAAAAAAAAA
XM_005247389.4:c.1503+34_1503+35insTAAAAAAAAAA	XP_005247446.1:n.1503+34_1503+35insTAAAAAAAAAA
XM_011512738.2:c.1558+75_1558+76insTAAAAAAAAAA	XP_011511040.1:n.1558+75_1558+76insTAAAAAAAAAA
XM_011512739.2:c.1062+34_1062+35insTAAAAAAAAAA	XP_011511041.1:n.1062+34_1062+35insTAAAAAAAAAA
NM_001199799.2:c.1599+34_1599+35insTAAAAAAAAAA MANE Select	NP_001186728.1:n.1599+34_1599+35insTAAAAAAAAAA
NM_001199800.2:c.1332+34_1332+35insTAAAAAAAAAA	NP_001186729.1:n.1332+34_1332+35insTAAAAAAAAAA
NM_175924.4:c.1467+34_1467+35insTAAAAAAAAAA	NP_787120.1:n.1467+34_1467+35insTAAAAAAAAAA