Canonical Allele Identifier: CA2650610512

Gene: MIA3

Linked Data

• gnomAD v4: 1-222658783-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.222658787dup , CM000663.2:g.222658787dup	GRCh38
NC_000001.10:g.222832129dup , CM000663.1:g.222832129dup	GRCh37
NC_000001.9:g.220898752dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344922.10:c.4673dup MANE Select	ENSP00000340900.5:p.Ala1559GlyfsTer16
ENST00000340535.11:c.1307dup	ENSP00000345866.7:p.Ala437GlyfsTer16
ENST00000344507.1:c.1475-6812dup	ENSP00000341348.1:n.1475-6812dup
ENST00000344922.9:c.4673dup	ENSP00000340900.5:p.Ala1559GlyfsTer16
ENST00000476400.1:n.146dup
NM_001300867.1:c.1307dup	NP_001287796.1:p.Ala437GlyfsTer16
NM_198551.3:c.4673dup	NP_940953.2:p.Ala1559GlyfsTer16
XM_005273121.3:c.4673dup	XP_005273178.1:p.Ala1559GlyfsTer16
XM_006711304.2:c.4496dup	XP_006711367.1:p.Ala1500GlyfsTer16
NM_001324062.1:c.4673dup	NP_001310991.1:p.Ala1559GlyfsTer16
NM_001324063.1:c.4496dup	NP_001310992.1:p.Ala1500GlyfsTer16
NM_001324064.1:c.4181dup	NP_001310993.1:p.Ala1395GlyfsTer16
NM_001324065.1:c.1307dup	NP_001310994.1:p.Ala437GlyfsTer16
XM_006711304.4:c.4496dup	XP_006711367.3:p.Ala1500GlyfsTer16
XM_017001243.2:c.4181dup	XP_016856732.1:p.Ala1395GlyfsTer16
NM_198551.4:c.4673dup MANE Select	NP_940953.2:p.Ala1559GlyfsTer16
NM_001300867.2:c.1307dup	NP_001287796.1:p.Ala437GlyfsTer16
NM_001324062.2:c.4673dup	NP_001310991.1:p.Ala1559GlyfsTer16
NM_001324063.2:c.4496dup	NP_001310992.1:p.Ala1500GlyfsTer16
NM_001324064.2:c.4181dup	NP_001310993.1:p.Ala1395GlyfsTer16
NM_001324065.2:c.1307dup	NP_001310994.1:p.Ala437GlyfsTer16