Canonical Allele Identifier: CA1397750901

Gene: ILDR1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993586_121993588delinsCAA , CM000665.2:g.121993586_121993588delinsCAA	GRCh38
NC_000003.11:g.121712433_121712435delinsCAA , CM000665.1:g.121712433_121712435delinsCAA	GRCh37
NC_000003.10:g.123195123_123195125delinsCAA	NCBI36
NG_031870.1:g.33693_33695delinsTTG
NG_031870.2:g.71967_71969delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1161_1163delinsTTG MANE Select	ENSP00000345667.5:p.Ser387=
ENST00000460554.2:n.1111_1113delinsTTG
ENST00000642615.1:c.*344_*346delinsTTG	ENSP00000495499.1:n.*344_*346delinsTTG
ENST00000273691.7:c.1029_1031delinsTTG	ENSP00000273691.3:p.Ser343=
ENST00000344209.9:c.1161_1163delinsTTG	ENSP00000345667.5:p.Ser387=
ENST00000393631.5:c.894_896delinsTTG	ENSP00000377251.1:p.Ser298=
ENST00000460554.1:n.1263_1265delinsTTG
ENST00000462014.1:c.1065_1067delinsTTG	ENSP00000419414.1:p.Ser355=
NM_001199799.1:c.1161_1163delinsTTG	NP_001186728.1:p.Ser387=
NM_001199800.1:c.894_896delinsTTG	NP_001186729.1:p.Ser298=
NM_175924.3:c.1029_1031delinsTTG	NP_787120.1:p.Ser343=
XM_005247389.3:c.1065_1067delinsTTG	XP_005247446.1:p.Ser355=
XM_011512738.1:c.1161_1163delinsTTG	XP_011511040.1:p.Ser387=
XM_011512739.1:c.624_626delinsTTG	XP_011511041.1:p.Ser208=
XM_005247389.4:c.1065_1067delinsTTG	XP_005247446.1:p.Ser355=
XM_011512738.2:c.1161_1163delinsTTG	XP_011511040.1:p.Ser387=
XM_011512739.2:c.624_626delinsTTG	XP_011511041.1:p.Ser208=
NM_001199799.2:c.1161_1163delinsTTG MANE Select	NP_001186728.1:p.Ser387=
NM_001199800.2:c.894_896delinsTTG	NP_001186729.1:p.Ser298=
NM_175924.4:c.1029_1031delinsTTG	NP_787120.1:p.Ser343=