Canonical Allele Identifier: CA2650610558

Gene: MIA3

Linked Data

• gnomAD v4: 1-222658986-T-TGCTCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.222658986_222658987insGCTCCC , CM000663.2:g.222658986_222658987insGCTCCC	GRCh38
NC_000001.10:g.222832328_222832329insGCTCCC , CM000663.1:g.222832328_222832329insGCTCCC	GRCh37
NC_000001.9:g.220898951_220898952insGCTCCC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344922.10:c.4709+163_4709+164insGCTCCC MANE Select	ENSP00000340900.5:n.4709+163_4709+164insGCTCCC
ENST00000340535.11:c.1343+163_1343+164insGCTCCC	ENSP00000345866.7:n.1343+163_1343+164insGCTCCC
ENST00000344507.1:c.1475-6613_1475-6612insGCTCCC	ENSP00000341348.1:n.1475-6613_1475-6612insGCTCCC
ENST00000344922.9:c.4709+163_4709+164insGCTCCC	ENSP00000340900.5:n.4709+163_4709+164insGCTCCC
ENST00000476400.1:n.182+163_182+164insGCTCCC
NM_001300867.1:c.1343+163_1343+164insGCTCCC	NP_001287796.1:n.1343+163_1343+164insGCTCCC
NM_198551.3:c.4709+163_4709+164insGCTCCC	NP_940953.2:n.4709+163_4709+164insGCTCCC
XM_005273121.3:c.4709+163_4709+164insGCTCCC	XP_005273178.1:n.4709+163_4709+164insGCTCCC
XM_006711304.2:c.4532+163_4532+164insGCTCCC	XP_006711367.1:n.4532+163_4532+164insGCTCCC
NM_001324062.1:c.4709+163_4709+164insGCTCCC	NP_001310991.1:n.4709+163_4709+164insGCTCCC
NM_001324063.1:c.4532+163_4532+164insGCTCCC	NP_001310992.1:n.4532+163_4532+164insGCTCCC
NM_001324064.1:c.4217+163_4217+164insGCTCCC	NP_001310993.1:n.4217+163_4217+164insGCTCCC
NM_001324065.1:c.1343+163_1343+164insGCTCCC	NP_001310994.1:n.1343+163_1343+164insGCTCCC
XM_006711304.4:c.4532+163_4532+164insGCTCCC	XP_006711367.3:n.4532+163_4532+164insGCTCCC
XM_017001243.2:c.4217+163_4217+164insGCTCCC	XP_016856732.1:n.4217+163_4217+164insGCTCCC
NM_198551.4:c.4709+163_4709+164insGCTCCC MANE Select	NP_940953.2:n.4709+163_4709+164insGCTCCC
NM_001300867.2:c.1343+163_1343+164insGCTCCC	NP_001287796.1:n.1343+163_1343+164insGCTCCC
NM_001324062.2:c.4709+163_4709+164insGCTCCC	NP_001310991.1:n.4709+163_4709+164insGCTCCC
NM_001324063.2:c.4532+163_4532+164insGCTCCC	NP_001310992.1:n.4532+163_4532+164insGCTCCC
NM_001324064.2:c.4217+163_4217+164insGCTCCC	NP_001310993.1:n.4217+163_4217+164insGCTCCC
NM_001324065.2:c.1343+163_1343+164insGCTCCC	NP_001310994.1:n.1343+163_1343+164insGCTCCC