Canonical Allele Identifier: CA2572263444
Gene: ILDR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122021991_122021994del , CM000665.2:g.122021991_122021994del GRCh38
NC_000003.11:g.121740838_121740841del , CM000665.1:g.121740838_121740841del GRCh37
NC_000003.10:g.123223528_123223531del NCBI36
NG_031870.1:g.5287_5290del
NG_031870.2:g.43561_43564del

Transcript Alleles

HGVS Amino-acid Change
ENST00000344209.10:c.58+26_58+29del MANE Select ENSP00000345667.5:n.58+26_58+29del
ENST00000642615.1:c.58+26_58+29del ENSP00000495499.1:n.58+26_58+29del
ENST00000273691.7:c.58+26_58+29del ENSP00000273691.3:n.58+26_58+29del
ENST00000344209.9:c.58+26_58+29del ENSP00000345667.5:n.58+26_58+29del
ENST00000393631.5:c.58+26_58+29del ENSP00000377251.1:n.58+26_58+29del
ENST00000460554.1:n.179+26_179+29del
NM_001199799.1:c.58+26_58+29del NP_001186728.1:n.58+26_58+29del
NM_001199800.1:c.58+26_58+29del NP_001186729.1:n.58+26_58+29del
NM_175924.3:c.58+26_58+29del NP_787120.1:n.58+26_58+29del
XM_011512738.1:c.58+26_58+29del XP_011511040.1:n.58+26_58+29del
XM_011512739.1:c.-347-14833_-347-14830del XP_011511041.1:n.-347-14833_-347-14830del
XM_011512738.2:c.58+26_58+29del XP_011511040.1:n.58+26_58+29del
XM_011512739.2:c.-347-14833_-347-14830del XP_011511041.1:n.-347-14833_-347-14830del
NM_001199799.2:c.58+26_58+29del MANE Select NP_001186728.1:n.58+26_58+29del
NM_001199800.2:c.58+26_58+29del NP_001186729.1:n.58+26_58+29del
NM_175924.4:c.58+26_58+29del NP_787120.1:n.58+26_58+29del