Canonical Allele Identifier: CA1052937618

Gene: ILDR1

Linked Data

• gnomAD v3: 3-121993156-C-CTA
• gnomAD v4: 3-121993156-C-CTA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993156_121993157insTA , CM000665.2:g.121993156_121993157insTA	GRCh38
NC_000003.11:g.121712003_121712004insTA , CM000665.1:g.121712003_121712004insTA	GRCh37
NC_000003.10:g.123194693_123194694insTA	NCBI36
NG_031870.1:g.34124_34125insTA
NG_031870.2:g.72398_72399insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1592_1593insTA MANE Select	ENSP00000345667.5:p.Arg531SerfsTer?
ENST00000460554.2:n.1542_1543insTA
ENST00000642615.1:c.*775_*776insTA	ENSP00000495499.1:n.*775_*776insTA
ENST00000273691.7:c.1460_1461insTA	ENSP00000273691.3:p.Arg487SerfsTer?
ENST00000344209.9:c.1592_1593insTA	ENSP00000345667.5:p.Arg531SerfsTer?
ENST00000393631.5:c.1325_1326insTA	ENSP00000377251.1:p.Arg442SerfsTer?
ENST00000460554.1:n.1694_1695insTA
ENST00000462014.1:c.1496_1497insTA	ENSP00000419414.1:p.Arg499SerfsTer?
NM_001199799.1:c.1592_1593insTA	NP_001186728.1:p.Arg531SerfsTer?
NM_001199800.1:c.1325_1326insTA	NP_001186729.1:p.Arg442SerfsTer?
NM_175924.3:c.1460_1461insTA	NP_787120.1:p.Arg487SerfsTer?
XM_005247389.3:c.1496_1497insTA	XP_005247446.1:p.Arg499SerfsTer?
XM_011512738.1:c.1558+34_1558+35insTA	XP_011511040.1:n.1558+34_1558+35insTA
XM_011512739.1:c.1055_1056insTA	XP_011511041.1:p.Arg352SerfsTer?
XM_005247389.4:c.1496_1497insTA	XP_005247446.1:p.Arg499SerfsTer?
XM_011512738.2:c.1558+34_1558+35insTA	XP_011511040.1:n.1558+34_1558+35insTA
XM_011512739.2:c.1055_1056insTA	XP_011511041.1:p.Arg352SerfsTer?
NM_001199799.2:c.1592_1593insTA MANE Select	NP_001186728.1:p.Arg531SerfsTer?
NM_001199800.2:c.1325_1326insTA	NP_001186729.1:p.Arg442SerfsTer?
NM_175924.4:c.1460_1461insTA	NP_787120.1:p.Arg487SerfsTer?