Canonical Allele Identifier: CA2650610549

Gene: MIA3

Linked Data

• gnomAD v4: 1-222658949-TAAATTTTAAGTTAACAAATGGAAAAATATTAACAAATACCCAGTGCTGGCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.222658953_222659003del , CM000663.2:g.222658953_222659003del	GRCh38
NC_000001.10:g.222832295_222832345del , CM000663.1:g.222832295_222832345del	GRCh37
NC_000001.9:g.220898918_220898968del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000344922.10:c.4709+130_4709+180del MANE Select	ENSP00000340900.5:n.4709+130_4709+180del
ENST00000340535.11:c.1343+130_1343+180del	ENSP00000345866.7:n.1343+130_1343+180del
ENST00000344507.1:c.1475-6646_1475-6596del	ENSP00000341348.1:n.1475-6646_1475-6596de...
ENST00000344922.9:c.4709+130_4709+180del	ENSP00000340900.5:n.4709+130_4709+180del
ENST00000476400.1:n.182+130_182+180del
NM_001300867.1:c.1343+130_1343+180del	NP_001287796.1:n.1343+130_1343+180del
NM_198551.3:c.4709+130_4709+180del	NP_940953.2:n.4709+130_4709+180del
XM_005273121.3:c.4709+130_4709+180del	XP_005273178.1:n.4709+130_4709+180del
XM_006711304.2:c.4532+130_4532+180del	XP_006711367.1:n.4532+130_4532+180del
NM_001324062.1:c.4709+130_4709+180del	NP_001310991.1:n.4709+130_4709+180del
NM_001324063.1:c.4532+130_4532+180del	NP_001310992.1:n.4532+130_4532+180del
NM_001324064.1:c.4217+130_4217+180del	NP_001310993.1:n.4217+130_4217+180del
NM_001324065.1:c.1343+130_1343+180del	NP_001310994.1:n.1343+130_1343+180del
XM_006711304.4:c.4532+130_4532+180del	XP_006711367.3:n.4532+130_4532+180del
XM_017001243.2:c.4217+130_4217+180del	XP_016856732.1:n.4217+130_4217+180del
NM_198551.4:c.4709+130_4709+180del MANE Select	NP_940953.2:n.4709+130_4709+180del
NM_001300867.2:c.1343+130_1343+180del	NP_001287796.1:n.1343+130_1343+180del
NM_001324062.2:c.4709+130_4709+180del	NP_001310991.1:n.4709+130_4709+180del
NM_001324063.2:c.4532+130_4532+180del	NP_001310992.1:n.4532+130_4532+180del
NM_001324064.2:c.4217+130_4217+180del	NP_001310993.1:n.4217+130_4217+180del
NM_001324065.2:c.1343+130_1343+180del	NP_001310994.1:n.1343+130_1343+180del