Canonical Allele Identifier: CA2667222065

Gene: ILDR1

Linked Data

• gnomAD v4: 3-121993099-G-GCTCCTCTCTGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993099_121993100insCTCCTCTCTGCC , CM000665.2:g.121993099_121993100insCTCCTCTCTGCC	GRCh38
NC_000003.11:g.121711946_121711947insCTCCTCTCTGCC , CM000665.1:g.121711946_121711947insCTCCTCTCTGCC	GRCh37
NC_000003.10:g.123194636_123194637insCTCCTCTCTGCC	NCBI36
NG_031870.1:g.34181_34182insGGCAGAGAGGAG
NG_031870.2:g.72455_72456insGGCAGAGAGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1599+50_1599+51insGGCAGAGAGGAG MANE Select	ENSP00000345667.5:n.1599+50_1599+51insGGCAGAGAGGAG
ENST00000460554.2:n.1549+50_1549+51insGGCAGAGAGGAG
ENST00000642615.1:c.*782+50_*782+51insGGCAGAGAGGAG	ENSP00000495499.1:n.*782+50_*782+51insGGCAGAGAGGAG
ENST00000273691.7:c.1467+50_1467+51insGGCAGAGAGGAG	ENSP00000273691.3:n.1467+50_1467+51insGGCAGAGAGGAG
ENST00000344209.9:c.1599+50_1599+51insGGCAGAGAGGAG	ENSP00000345667.5:n.1599+50_1599+51insGGCAGAGAGGAG
ENST00000393631.5:c.1332+50_1332+51insGGCAGAGAGGAG	ENSP00000377251.1:n.1332+50_1332+51insGGCAGAGAGGAG
ENST00000462014.1:c.1503+50_1503+51insGGCAGAGAGGAG	ENSP00000419414.1:n.1503+50_1503+51insGGCAGAGAGGAG
NM_001199799.1:c.1599+50_1599+51insGGCAGAGAGGAG	NP_001186728.1:n.1599+50_1599+51insGGCAGAGAGGAG
NM_001199800.1:c.1332+50_1332+51insGGCAGAGAGGAG	NP_001186729.1:n.1332+50_1332+51insGGCAGAGAGGAG
NM_175924.3:c.1467+50_1467+51insGGCAGAGAGGAG	NP_787120.1:n.1467+50_1467+51insGGCAGAGAGGAG
XM_005247389.3:c.1503+50_1503+51insGGCAGAGAGGAG	XP_005247446.1:n.1503+50_1503+51insGGCAGAGAGGAG
XM_011512738.1:c.1558+91_1558+92insGGCAGAGAGGAG	XP_011511040.1:n.1558+91_1558+92insGGCAGAGAGGAG
XM_011512739.1:c.1062+50_1062+51insGGCAGAGAGGAG	XP_011511041.1:n.1062+50_1062+51insGGCAGAGAGGAG
XM_005247389.4:c.1503+50_1503+51insGGCAGAGAGGAG	XP_005247446.1:n.1503+50_1503+51insGGCAGAGAGGAG
XM_011512738.2:c.1558+91_1558+92insGGCAGAGAGGAG	XP_011511040.1:n.1558+91_1558+92insGGCAGAGAGGAG
XM_011512739.2:c.1062+50_1062+51insGGCAGAGAGGAG	XP_011511041.1:n.1062+50_1062+51insGGCAGAGAGGAG
NM_001199799.2:c.1599+50_1599+51insGGCAGAGAGGAG MANE Select	NP_001186728.1:n.1599+50_1599+51insGGCAGAGAGGAG
NM_001199800.2:c.1332+50_1332+51insGGCAGAGAGGAG	NP_001186729.1:n.1332+50_1332+51insGGCAGAGAGGAG
NM_175924.4:c.1467+50_1467+51insGGCAGAGAGGAG	NP_787120.1:n.1467+50_1467+51insGGCAGAGAGGAG