Canonical Allele Identifier: CA1052937584

Gene: ILDR1

Linked Data

• gnomAD v3: 3-121993138-CCCCA-C
• gnomAD v4: 3-121993138-CCCCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993139_121993142del , CM000665.2:g.121993139_121993142del	GRCh38
NC_000003.11:g.121711986_121711989del , CM000665.1:g.121711986_121711989del	GRCh37
NC_000003.10:g.123194676_123194679del	NCBI36
NG_031870.1:g.34139_34142del
NG_031870.2:g.72413_72416del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1599+8_1599+11del MANE Select	ENSP00000345667.5:n.1599+8_1599+11del
ENST00000460554.2:n.1549+8_1549+11del
ENST00000642615.1:c.*782+8_*782+11del	ENSP00000495499.1:n.*782+8_*782+11del
ENST00000273691.7:c.1467+8_1467+11del	ENSP00000273691.3:n.1467+8_1467+11del
ENST00000344209.9:c.1599+8_1599+11del	ENSP00000345667.5:n.1599+8_1599+11del
ENST00000393631.5:c.1332+8_1332+11del	ENSP00000377251.1:n.1332+8_1332+11del
ENST00000462014.1:c.1503+8_1503+11del	ENSP00000419414.1:n.1503+8_1503+11del
NM_001199799.1:c.1599+8_1599+11del	NP_001186728.1:n.1599+8_1599+11del
NM_001199800.1:c.1332+8_1332+11del	NP_001186729.1:n.1332+8_1332+11del
NM_175924.3:c.1467+8_1467+11del	NP_787120.1:n.1467+8_1467+11del
XM_005247389.3:c.1503+8_1503+11del	XP_005247446.1:n.1503+8_1503+11del
XM_011512738.1:c.1558+49_1558+52del	XP_011511040.1:n.1558+49_1558+52del
XM_011512739.1:c.1062+8_1062+11del	XP_011511041.1:n.1062+8_1062+11del
XM_005247389.4:c.1503+8_1503+11del	XP_005247446.1:n.1503+8_1503+11del
XM_011512738.2:c.1558+49_1558+52del	XP_011511040.1:n.1558+49_1558+52del
XM_011512739.2:c.1062+8_1062+11del	XP_011511041.1:n.1062+8_1062+11del
NM_001199799.2:c.1599+8_1599+11del MANE Select	NP_001186728.1:n.1599+8_1599+11del
NM_001199800.2:c.1332+8_1332+11del	NP_001186729.1:n.1332+8_1332+11del
NM_175924.4:c.1467+8_1467+11del	NP_787120.1:n.1467+8_1467+11del