Canonical Allele Identifier: CA1223337151

Gene: MIA3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.222659178_222659181delinsGGAA , CM000663.2:g.222659178_222659181delinsGGAA	GRCh38
NC_000001.10:g.222832520_222832523delinsGGAA , CM000663.1:g.222832520_222832523delinsGGAA	GRCh37
NC_000001.9:g.220899143_220899146delinsGGAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344922.10:c.4710-275_4710-272delinsGGAA MANE Select	ENSP00000340900.5:n.4710-275_4710-272delinsGGAA
ENST00000340535.11:c.1344-275_1344-272delinsGGAA	ENSP00000345866.7:n.1344-275_1344-272delinsGGAA
ENST00000344507.1:c.1475-6421_1475-6418delinsGGAA	ENSP00000341348.1:n.1475-6421_1475-6418delinsGGAA
ENST00000344922.9:c.4710-275_4710-272delinsGGAA	ENSP00000340900.5:n.4710-275_4710-272delinsGGAA
ENST00000476400.1:n.183-275_183-272delinsGGAA
NM_001300867.1:c.1344-275_1344-272delinsGGAA	NP_001287796.1:n.1344-275_1344-272delinsGGAA
NM_198551.3:c.4710-275_4710-272delinsGGAA	NP_940953.2:n.4710-275_4710-272delinsGGAA
XM_005273121.3:c.4710-275_4710-272delinsGGAA	XP_005273178.1:n.4710-275_4710-272delinsGGAA
XM_006711304.2:c.4533-275_4533-272delinsGGAA	XP_006711367.1:n.4533-275_4533-272delinsGGAA
NM_001324062.1:c.4710-275_4710-272delinsGGAA	NP_001310991.1:n.4710-275_4710-272delinsGGAA
NM_001324063.1:c.4533-275_4533-272delinsGGAA	NP_001310992.1:n.4533-275_4533-272delinsGGAA
NM_001324064.1:c.4218-275_4218-272delinsGGAA	NP_001310993.1:n.4218-275_4218-272delinsGGAA
NM_001324065.1:c.1344-275_1344-272delinsGGAA	NP_001310994.1:n.1344-275_1344-272delinsGGAA
XM_006711304.4:c.4533-275_4533-272delinsGGAA	XP_006711367.3:n.4533-275_4533-272delinsGGAA
XM_017001243.2:c.4218-275_4218-272delinsGGAA	XP_016856732.1:n.4218-275_4218-272delinsGGAA
NM_198551.4:c.4710-275_4710-272delinsGGAA MANE Select	NP_940953.2:n.4710-275_4710-272delinsGGAA
NM_001300867.2:c.1344-275_1344-272delinsGGAA	NP_001287796.1:n.1344-275_1344-272delinsGGAA
NM_001324062.2:c.4710-275_4710-272delinsGGAA	NP_001310991.1:n.4710-275_4710-272delinsGGAA
NM_001324063.2:c.4533-275_4533-272delinsGGAA	NP_001310992.1:n.4533-275_4533-272delinsGGAA
NM_001324064.2:c.4218-275_4218-272delinsGGAA	NP_001310993.1:n.4218-275_4218-272delinsGGAA
NM_001324065.2:c.1344-275_1344-272delinsGGAA	NP_001310994.1:n.1344-275_1344-272delinsGGAA