Canonical Allele Identifier: CA1223337050

Gene: MIA3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.222658844_222658867delinsGGGTATCAGTGGCTAATGAAACTA , CM000663.2:g.222658844_222658867delinsGGGTATCAGTGGCTAATGAAACTA	GRCh38
NC_000001.10:g.222832186_222832209delinsGGGTATCAGTGGCTAATGAAACTA , CM000663.1:g.222832186_222832209delinsGGGTATCAGTGGCTAATGAAACTA	GRCh37
NC_000001.9:g.220898809_220898832delinsGGGTATCAGTGGCTAATGAAACTA	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000344922.10:c.4709+21_4709+44delinsGGGTATCAGTGGCTAATGAAACTA MANE Select	ENSP00000340900.5:n.4709+21_4709+44delins...
ENST00000340535.11:c.1343+21_1343+44delinsGGGTATCAGTGGCTAATGAAACTA	ENSP00000345866.7:n.1343+21_1343+44delins...
ENST00000344507.1:c.1475-6755_1475-6732delinsGGGTATCAGTGGCTAATGAAACTA	ENSP00000341348.1:n.1475-6755_1475-6732de...
ENST00000344922.9:c.4709+21_4709+44delinsGGGTATCAGTGGCTAATGAAACTA	ENSP00000340900.5:n.4709+21_4709+44delins...
ENST00000476400.1:n.182+21_182+44delinsGGGTATCAGTGGCTAATGAAACTA
NM_001300867.1:c.1343+21_1343+44delinsGGGTATCAGTGGCTAATGAAACTA	NP_001287796.1:n.1343+21_1343+44delinsGGG...
NM_198551.3:c.4709+21_4709+44delinsGGGTATCAGTGGCTAATGAAACTA	NP_940953.2:n.4709+21_4709+44delinsGGGTAT...
XM_005273121.3:c.4709+21_4709+44delinsGGGTATCAGTGGCTAATGAAACTA	XP_005273178.1:n.4709+21_4709+44delinsGGG...
XM_006711304.2:c.4532+21_4532+44delinsGGGTATCAGTGGCTAATGAAACTA	XP_006711367.1:n.4532+21_4532+44delinsGGG...
NM_001324062.1:c.4709+21_4709+44delinsGGGTATCAGTGGCTAATGAAACTA	NP_001310991.1:n.4709+21_4709+44delinsGGG...
NM_001324063.1:c.4532+21_4532+44delinsGGGTATCAGTGGCTAATGAAACTA	NP_001310992.1:n.4532+21_4532+44delinsGGG...
NM_001324064.1:c.4217+21_4217+44delinsGGGTATCAGTGGCTAATGAAACTA	NP_001310993.1:n.4217+21_4217+44delinsGGG...
NM_001324065.1:c.1343+21_1343+44delinsGGGTATCAGTGGCTAATGAAACTA	NP_001310994.1:n.1343+21_1343+44delinsGGG...
XM_006711304.4:c.4532+21_4532+44delinsGGGTATCAGTGGCTAATGAAACTA	XP_006711367.3:n.4532+21_4532+44delinsGGG...
XM_017001243.2:c.4217+21_4217+44delinsGGGTATCAGTGGCTAATGAAACTA	XP_016856732.1:n.4217+21_4217+44delinsGGG...
NM_198551.4:c.4709+21_4709+44delinsGGGTATCAGTGGCTAATGAAACTA MANE Select	NP_940953.2:n.4709+21_4709+44delinsGGGTAT...
NM_001300867.2:c.1343+21_1343+44delinsGGGTATCAGTGGCTAATGAAACTA	NP_001287796.1:n.1343+21_1343+44delinsGGG...
NM_001324062.2:c.4709+21_4709+44delinsGGGTATCAGTGGCTAATGAAACTA	NP_001310991.1:n.4709+21_4709+44delinsGGG...
NM_001324063.2:c.4532+21_4532+44delinsGGGTATCAGTGGCTAATGAAACTA	NP_001310992.1:n.4532+21_4532+44delinsGGG...
NM_001324064.2:c.4217+21_4217+44delinsGGGTATCAGTGGCTAATGAAACTA	NP_001310993.1:n.4217+21_4217+44delinsGGG...
NM_001324065.2:c.1343+21_1343+44delinsGGGTATCAGTGGCTAATGAAACTA	NP_001310994.1:n.1343+21_1343+44delinsGGG...