Canonical Allele Identifier: CA621877720

Gene: ITGAM

Linked Data

• gnomAD v2: 16-31276729-G-GC
• gnomAD v4: 16-31265408-G-GC
• MyVariant Identifiers: chr16:g.31276729_31276730insC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31265414dup , CM000678.2:g.31265414dup	GRCh38
NC_000016.9:g.31276735dup , CM000678.1:g.31276735dup	GRCh37
NC_000016.8:g.31184236dup	NCBI36
NG_011719.1:g.10448dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000544665.9:c.154dup MANE Select	ENSP00000441691.3:p.Gln52ProfsTer?
ENST00000648685.1:c.154dup	ENSP00000496959.1:p.Gln52ProfsTer?
ENST00000287497.12:c.154dup	ENSP00000287497.8:p.Gln52ProfsTer?
ENST00000544665.7:c.154dup	ENSP00000441691.2:p.Gln52ProfsTer?
NM_000632.3:c.154dup	NP_000623.2:p.Gln52ProfsTer?
NM_001145808.1:c.154dup	NP_001139280.1:p.Gln52ProfsTer?
XM_006721045.1:c.154dup	XP_006721108.1:p.Gln52ProfsTer?
XM_011545850.1:c.-62dup	XP_011544152.1:n.-62dup
XM_011545851.1:c.154dup	XP_011544153.1:p.Gln52ProfsTer?
XR_950796.1:n.244dup
XM_011545850.2:c.-62dup	XP_011544152.1:n.-62dup
XM_011545851.2:c.154dup	XP_011544153.1:p.Gln52ProfsTer?
XM_017023216.1:c.154dup	XP_016878705.1:p.Gln52ProfsTer?
NM_000632.4:c.154dup MANE Select	NP_000623.2:p.Gln52ProfsTer?
NM_001145808.2:c.154dup	NP_001139280.1:p.Gln52ProfsTer?