Canonical Allele Identifier: CA37651374

Gene: MIA3

Linked Data

• dbSNP Id: rs927274479
• gnomAD v2: 1-222832653-TAACC-T
• gnomAD v3: 1-222659311-TAACC-T
• gnomAD v4: 1-222659311-TAACC-T
• MyVariant Identifiers: chr1:g.222832654_222832657del (hg19) ; chr1:g.222659312_222659315del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.222659317_222659320del , CM000663.2:g.222659317_222659320del	GRCh38
NC_000001.10:g.222832659_222832662del , CM000663.1:g.222832659_222832662del	GRCh37
NC_000001.9:g.220899282_220899285del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344922.10:c.4710-136_4710-133del MANE Select	ENSP00000340900.5:n.4710-136_4710-133del
ENST00000340535.11:c.1344-136_1344-133del	ENSP00000345866.7:n.1344-136_1344-133del
ENST00000344507.1:c.1475-6282_1475-6279del	ENSP00000341348.1:n.1475-6282_1475-6279del
ENST00000344922.9:c.4710-136_4710-133del	ENSP00000340900.5:n.4710-136_4710-133del
ENST00000476400.1:n.183-136_183-133del
NM_001300867.1:c.1344-136_1344-133del	NP_001287796.1:n.1344-136_1344-133del
NM_198551.3:c.4710-136_4710-133del	NP_940953.2:n.4710-136_4710-133del
XM_005273121.3:c.4710-136_4710-133del	XP_005273178.1:n.4710-136_4710-133del
XM_006711304.2:c.4533-136_4533-133del	XP_006711367.1:n.4533-136_4533-133del
NM_001324062.1:c.4710-136_4710-133del	NP_001310991.1:n.4710-136_4710-133del
NM_001324063.1:c.4533-136_4533-133del	NP_001310992.1:n.4533-136_4533-133del
NM_001324064.1:c.4218-136_4218-133del	NP_001310993.1:n.4218-136_4218-133del
NM_001324065.1:c.1344-136_1344-133del	NP_001310994.1:n.1344-136_1344-133del
XM_006711304.4:c.4533-136_4533-133del	XP_006711367.3:n.4533-136_4533-133del
XM_017001243.2:c.4218-136_4218-133del	XP_016856732.1:n.4218-136_4218-133del
NM_198551.4:c.4710-136_4710-133del MANE Select	NP_940953.2:n.4710-136_4710-133del
NM_001300867.2:c.1344-136_1344-133del	NP_001287796.1:n.1344-136_1344-133del
NM_001324062.2:c.4710-136_4710-133del	NP_001310991.1:n.4710-136_4710-133del
NM_001324063.2:c.4533-136_4533-133del	NP_001310992.1:n.4533-136_4533-133del
NM_001324064.2:c.4218-136_4218-133del	NP_001310993.1:n.4218-136_4218-133del
NM_001324065.2:c.1344-136_1344-133del	NP_001310994.1:n.1344-136_1344-133del