Canonical Allele Identifier: CA1223337051
Gene: MIA3 HGNC NCBI

Linked Data

dbSNP Id: rs1663864705

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.222658846_222658868del , CM000663.2:g.222658846_222658868del GRCh38
NC_000001.10:g.222832188_222832210del , CM000663.1:g.222832188_222832210del GRCh37
NC_000001.9:g.220898811_220898833del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000344922.10:c.4709+23_4709+45del MANE Select ENSP00000340900.5:n.4709+23_4709+45del
ENST00000340535.11:c.1343+23_1343+45del ENSP00000345866.7:n.1343+23_1343+45del
ENST00000344507.1:c.1475-6753_1475-6731del ENSP00000341348.1:n.1475-6753_1475-6731de...
ENST00000344922.9:c.4709+23_4709+45del ENSP00000340900.5:n.4709+23_4709+45del
ENST00000476400.1:n.182+23_182+45del
NM_001300867.1:c.1343+23_1343+45del NP_001287796.1:n.1343+23_1343+45del
NM_198551.3:c.4709+23_4709+45del NP_940953.2:n.4709+23_4709+45del
XM_005273121.3:c.4709+23_4709+45del XP_005273178.1:n.4709+23_4709+45del
XM_006711304.2:c.4532+23_4532+45del XP_006711367.1:n.4532+23_4532+45del
NM_001324062.1:c.4709+23_4709+45del NP_001310991.1:n.4709+23_4709+45del
NM_001324063.1:c.4532+23_4532+45del NP_001310992.1:n.4532+23_4532+45del
NM_001324064.1:c.4217+23_4217+45del NP_001310993.1:n.4217+23_4217+45del
NM_001324065.1:c.1343+23_1343+45del NP_001310994.1:n.1343+23_1343+45del
XM_006711304.4:c.4532+23_4532+45del XP_006711367.3:n.4532+23_4532+45del
XM_017001243.2:c.4217+23_4217+45del XP_016856732.1:n.4217+23_4217+45del
NM_198551.4:c.4709+23_4709+45del MANE Select NP_940953.2:n.4709+23_4709+45del
NM_001300867.2:c.1343+23_1343+45del NP_001287796.1:n.1343+23_1343+45del
NM_001324062.2:c.4709+23_4709+45del NP_001310991.1:n.4709+23_4709+45del
NM_001324063.2:c.4532+23_4532+45del NP_001310992.1:n.4532+23_4532+45del
NM_001324064.2:c.4217+23_4217+45del NP_001310993.1:n.4217+23_4217+45del
NM_001324065.2:c.1343+23_1343+45del NP_001310994.1:n.1343+23_1343+45del