Canonical Allele Identifier: CA2650610551

Gene: MIA3

Linked Data

• gnomAD v4: 1-222658954-TTTAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.222658959_222658963del , CM000663.2:g.222658959_222658963del	GRCh38
NC_000001.10:g.222832301_222832305del , CM000663.1:g.222832301_222832305del	GRCh37
NC_000001.9:g.220898924_220898928del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344922.10:c.4709+136_4709+140del MANE Select	ENSP00000340900.5:n.4709+136_4709+140del
ENST00000340535.11:c.1343+136_1343+140del	ENSP00000345866.7:n.1343+136_1343+140del
ENST00000344507.1:c.1475-6640_1475-6636del	ENSP00000341348.1:n.1475-6640_1475-6636del
ENST00000344922.9:c.4709+136_4709+140del	ENSP00000340900.5:n.4709+136_4709+140del
ENST00000476400.1:n.182+136_182+140del
NM_001300867.1:c.1343+136_1343+140del	NP_001287796.1:n.1343+136_1343+140del
NM_198551.3:c.4709+136_4709+140del	NP_940953.2:n.4709+136_4709+140del
XM_005273121.3:c.4709+136_4709+140del	XP_005273178.1:n.4709+136_4709+140del
XM_006711304.2:c.4532+136_4532+140del	XP_006711367.1:n.4532+136_4532+140del
NM_001324062.1:c.4709+136_4709+140del	NP_001310991.1:n.4709+136_4709+140del
NM_001324063.1:c.4532+136_4532+140del	NP_001310992.1:n.4532+136_4532+140del
NM_001324064.1:c.4217+136_4217+140del	NP_001310993.1:n.4217+136_4217+140del
NM_001324065.1:c.1343+136_1343+140del	NP_001310994.1:n.1343+136_1343+140del
XM_006711304.4:c.4532+136_4532+140del	XP_006711367.3:n.4532+136_4532+140del
XM_017001243.2:c.4217+136_4217+140del	XP_016856732.1:n.4217+136_4217+140del
NM_198551.4:c.4709+136_4709+140del MANE Select	NP_940953.2:n.4709+136_4709+140del
NM_001300867.2:c.1343+136_1343+140del	NP_001287796.1:n.1343+136_1343+140del
NM_001324062.2:c.4709+136_4709+140del	NP_001310991.1:n.4709+136_4709+140del
NM_001324063.2:c.4532+136_4532+140del	NP_001310992.1:n.4532+136_4532+140del
NM_001324064.2:c.4217+136_4217+140del	NP_001310993.1:n.4217+136_4217+140del
NM_001324065.2:c.1343+136_1343+140del	NP_001310994.1:n.1343+136_1343+140del