Canonical Allele Identifier: CA2575976785
Gene: ITGAM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31265493del , CM000678.2:g.31265493del GRCh38
NC_000016.9:g.31276814del , CM000678.1:g.31276814del GRCh37
NC_000016.8:g.31184315del NCBI36
NG_011719.1:g.10527del

Transcript Alleles

HGVS Amino-acid Change
ENST00000544665.9:c.233del MANE Select ENSP00000441691.3:p.Leu78ArgfsTer8
ENST00000648685.1:c.233del ENSP00000496959.1:p.Leu78ArgfsTer8
ENST00000287497.12:c.233del ENSP00000287497.8:p.Leu78ArgfsTer8
ENST00000544665.7:c.233del ENSP00000441691.2:p.Leu78ArgfsTer8
NM_000632.3:c.233del NP_000623.2:p.Leu78ArgfsTer8
NM_001145808.1:c.233del NP_001139280.1:p.Leu78ArgfsTer8
XM_006721045.1:c.233del XP_006721108.1:p.Leu78ArgfsTer8
XM_011545850.1:c.18del XP_011544152.1:p.Ala7GlnfsTer3
XM_011545851.1:c.233del XP_011544153.1:p.Leu78ArgfsTer8
XR_950796.1:n.323del
XM_011545850.2:c.18del XP_011544152.1:p.Ala7GlnfsTer3
XM_011545851.2:c.233del XP_011544153.1:p.Leu78ArgfsTer8
XM_017023216.1:c.233del XP_016878705.1:p.Leu78ArgfsTer8
NM_000632.4:c.233del MANE Select NP_000623.2:p.Leu78ArgfsTer8
NM_001145808.2:c.233del NP_001139280.1:p.Leu78ArgfsTer8