Canonical Allele Identifier: CA1397750669

Gene: ILDR1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993161_121993163delinsCCA , CM000665.2:g.121993161_121993163delinsCCA	GRCh38
NC_000003.11:g.121712008_121712010delinsCCA , CM000665.1:g.121712008_121712010delinsCCA	GRCh37
NC_000003.10:g.123194698_123194700delinsCCA	NCBI36
NG_031870.1:g.34118_34120delinsTGG
NG_031870.2:g.72392_72394delinsTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1586_1588delinsTGG MANE Select	ENSP00000345667.5:p.Val529=
ENST00000460554.2:n.1536_1538delinsTGG
ENST00000642615.1:c.*769_*771delinsTGG	ENSP00000495499.1:n.*769_*771delinsTGG
ENST00000273691.7:c.1454_1456delinsTGG	ENSP00000273691.3:p.Val485=
ENST00000344209.9:c.1586_1588delinsTGG	ENSP00000345667.5:p.Val529=
ENST00000393631.5:c.1319_1321delinsTGG	ENSP00000377251.1:p.Val440=
ENST00000460554.1:n.1688_1690delinsTGG
ENST00000462014.1:c.1490_1492delinsTGG	ENSP00000419414.1:p.Val497=
NM_001199799.1:c.1586_1588delinsTGG	NP_001186728.1:p.Val529=
NM_001199800.1:c.1319_1321delinsTGG	NP_001186729.1:p.Val440=
NM_175924.3:c.1454_1456delinsTGG	NP_787120.1:p.Val485=
XM_005247389.3:c.1490_1492delinsTGG	XP_005247446.1:p.Val497=
XM_011512738.1:c.1558+28_1558+30delinsTGG	XP_011511040.1:n.1558+28_1558+30delinsTGG
XM_011512739.1:c.1049_1051delinsTGG	XP_011511041.1:p.Val350=
XM_005247389.4:c.1490_1492delinsTGG	XP_005247446.1:p.Val497=
XM_011512738.2:c.1558+28_1558+30delinsTGG	XP_011511040.1:n.1558+28_1558+30delinsTGG
XM_011512739.2:c.1049_1051delinsTGG	XP_011511041.1:p.Val350=
NM_001199799.2:c.1586_1588delinsTGG MANE Select	NP_001186728.1:p.Val529=
NM_001199800.2:c.1319_1321delinsTGG	NP_001186729.1:p.Val440=
NM_175924.4:c.1454_1456delinsTGG	NP_787120.1:p.Val485=