Canonical Allele Identifier: CA2650609513

Gene: MIA3

Linked Data

• gnomAD v4: 1-222650162-A-ACAG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.222650163_222650164insAGC , CM000663.2:g.222650163_222650164insAGC	GRCh38
NC_000001.10:g.222823505_222823506insAGC , CM000663.1:g.222823505_222823506insAGC	GRCh37
NC_000001.9:g.220890128_220890129insAGC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344922.10:c.3632-129_3632-128insAGC MANE Select	ENSP00000340900.5:n.3632-129_3632-128insAGC
ENST00000340535.11:c.266-129_266-128insAGC	ENSP00000345866.7:n.266-129_266-128insAGC
ENST00000344507.1:c.1475-15436_1475-15435insAGC	ENSP00000341348.1:n.1475-15436_1475-15435insAGC
ENST00000344922.9:c.3632-129_3632-128insAGC	ENSP00000340900.5:n.3632-129_3632-128insAGC
ENST00000354906.7:c.2379-129_2379-128insAGC
ENST00000467190.1:n.530-129_530-128insAGC
ENST00000495210.1:n.326-129_326-128insAGC
NM_001300867.1:c.266-129_266-128insAGC	NP_001287796.1:n.266-129_266-128insAGC
NM_198551.3:c.3632-129_3632-128insAGC	NP_940953.2:n.3632-129_3632-128insAGC
XM_005273121.3:c.3632-129_3632-128insAGC	XP_005273178.1:n.3632-129_3632-128insAGC
XM_006711304.2:c.3632-129_3632-128insAGC	XP_006711367.1:n.3632-129_3632-128insAGC
XM_011509513.1:c.3632-129_3632-128insAGC	XP_011507815.1:n.3632-129_3632-128insAGC
NM_001324062.1:c.3632-129_3632-128insAGC	NP_001310991.1:n.3632-129_3632-128insAGC
NM_001324063.1:c.3632-129_3632-128insAGC	NP_001310992.1:n.3632-129_3632-128insAGC
NM_001324064.1:c.3140-129_3140-128insAGC	NP_001310993.1:n.3140-129_3140-128insAGC
NM_001324065.1:c.266-129_266-128insAGC	NP_001310994.1:n.266-129_266-128insAGC
XM_006711304.4:c.3632-129_3632-128insAGC	XP_006711367.3:n.3632-129_3632-128insAGC
XM_011509513.3:c.3632-129_3632-128insAGC	XP_011507815.3:n.3632-129_3632-128insAGC
XM_017001243.2:c.3140-129_3140-128insAGC	XP_016856732.1:n.3140-129_3140-128insAGC
NM_198551.4:c.3632-129_3632-128insAGC MANE Select	NP_940953.2:n.3632-129_3632-128insAGC
NM_001300867.2:c.266-129_266-128insAGC	NP_001287796.1:n.266-129_266-128insAGC
NM_001324062.2:c.3632-129_3632-128insAGC	NP_001310991.1:n.3632-129_3632-128insAGC
NM_001324063.2:c.3632-129_3632-128insAGC	NP_001310992.1:n.3632-129_3632-128insAGC
NM_001324064.2:c.3140-129_3140-128insAGC	NP_001310993.1:n.3140-129_3140-128insAGC
NM_001324065.2:c.266-129_266-128insAGC	NP_001310994.1:n.266-129_266-128insAGC