Canonical Allele Identifier: CA1223337095
Gene: MIA3 HGNC NCBI

Linked Data

dbSNP Id: rs1663871688

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.222658968_222658974del , CM000663.2:g.222658968_222658974del GRCh38
NC_000001.10:g.222832310_222832316del , CM000663.1:g.222832310_222832316del GRCh37
NC_000001.9:g.220898933_220898939del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000344922.10:c.4709+145_4709+151del MANE Select ENSP00000340900.5:n.4709+145_4709+151del
ENST00000340535.11:c.1343+145_1343+151del ENSP00000345866.7:n.1343+145_1343+151del
ENST00000344507.1:c.1475-6631_1475-6625del ENSP00000341348.1:n.1475-6631_1475-6625de...
ENST00000344922.9:c.4709+145_4709+151del ENSP00000340900.5:n.4709+145_4709+151del
ENST00000476400.1:n.182+145_182+151del
NM_001300867.1:c.1343+145_1343+151del NP_001287796.1:n.1343+145_1343+151del
NM_198551.3:c.4709+145_4709+151del NP_940953.2:n.4709+145_4709+151del
XM_005273121.3:c.4709+145_4709+151del XP_005273178.1:n.4709+145_4709+151del
XM_006711304.2:c.4532+145_4532+151del XP_006711367.1:n.4532+145_4532+151del
NM_001324062.1:c.4709+145_4709+151del NP_001310991.1:n.4709+145_4709+151del
NM_001324063.1:c.4532+145_4532+151del NP_001310992.1:n.4532+145_4532+151del
NM_001324064.1:c.4217+145_4217+151del NP_001310993.1:n.4217+145_4217+151del
NM_001324065.1:c.1343+145_1343+151del NP_001310994.1:n.1343+145_1343+151del
XM_006711304.4:c.4532+145_4532+151del XP_006711367.3:n.4532+145_4532+151del
XM_017001243.2:c.4217+145_4217+151del XP_016856732.1:n.4217+145_4217+151del
NM_198551.4:c.4709+145_4709+151del MANE Select NP_940953.2:n.4709+145_4709+151del
NM_001300867.2:c.1343+145_1343+151del NP_001287796.1:n.1343+145_1343+151del
NM_001324062.2:c.4709+145_4709+151del NP_001310991.1:n.4709+145_4709+151del
NM_001324063.2:c.4532+145_4532+151del NP_001310992.1:n.4532+145_4532+151del
NM_001324064.2:c.4217+145_4217+151del NP_001310993.1:n.4217+145_4217+151del
NM_001324065.2:c.1343+145_1343+151del NP_001310994.1:n.1343+145_1343+151del