Canonical Allele Identifier: CA529462265

Gene: MIA3

Linked Data

• dbSNP Id: rs1280237534
• gnomAD v2: 1-222832181-A-ATCCTATTCTT
• MyVariant Identifiers: chr1:g.222832181_222832182insTCCTATTCTT (hg19) ; chr1:g.222658839_222658840insTCCTATTCTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.222658839_222658840insTCCTATTCTT , CM000663.2:g.222658839_222658840insTCCTATTCTT	GRCh38
NC_000001.10:g.222832181_222832182insTCCTATTCTT , CM000663.1:g.222832181_222832182insTCCTATTCTT	GRCh37
NC_000001.9:g.220898804_220898805insTCCTATTCTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344922.10:c.4709+16_4709+17insTCCTATTCTT MANE Select	ENSP00000340900.5:n.4709+16_4709+17insTCCTATTCTT
ENST00000340535.11:c.1343+16_1343+17insTCCTATTCTT	ENSP00000345866.7:n.1343+16_1343+17insTCCTATTCTT
ENST00000344507.1:c.1475-6760_1475-6759insTCCTATTCTT	ENSP00000341348.1:n.1475-6760_1475-6759insTCCTATTCTT
ENST00000344922.9:c.4709+16_4709+17insTCCTATTCTT	ENSP00000340900.5:n.4709+16_4709+17insTCCTATTCTT
ENST00000476400.1:n.182+16_182+17insTCCTATTCTT
NM_001300867.1:c.1343+16_1343+17insTCCTATTCTT	NP_001287796.1:n.1343+16_1343+17insTCCTATTCTT
NM_198551.3:c.4709+16_4709+17insTCCTATTCTT	NP_940953.2:n.4709+16_4709+17insTCCTATTCTT
XM_005273121.3:c.4709+16_4709+17insTCCTATTCTT	XP_005273178.1:n.4709+16_4709+17insTCCTATTCTT
XM_006711304.2:c.4532+16_4532+17insTCCTATTCTT	XP_006711367.1:n.4532+16_4532+17insTCCTATTCTT
NM_001324062.1:c.4709+16_4709+17insTCCTATTCTT	NP_001310991.1:n.4709+16_4709+17insTCCTATTCTT
NM_001324063.1:c.4532+16_4532+17insTCCTATTCTT	NP_001310992.1:n.4532+16_4532+17insTCCTATTCTT
NM_001324064.1:c.4217+16_4217+17insTCCTATTCTT	NP_001310993.1:n.4217+16_4217+17insTCCTATTCTT
NM_001324065.1:c.1343+16_1343+17insTCCTATTCTT	NP_001310994.1:n.1343+16_1343+17insTCCTATTCTT
XM_006711304.4:c.4532+16_4532+17insTCCTATTCTT	XP_006711367.3:n.4532+16_4532+17insTCCTATTCTT
XM_017001243.2:c.4217+16_4217+17insTCCTATTCTT	XP_016856732.1:n.4217+16_4217+17insTCCTATTCTT
NM_198551.4:c.4709+16_4709+17insTCCTATTCTT MANE Select	NP_940953.2:n.4709+16_4709+17insTCCTATTCTT
NM_001300867.2:c.1343+16_1343+17insTCCTATTCTT	NP_001287796.1:n.1343+16_1343+17insTCCTATTCTT
NM_001324062.2:c.4709+16_4709+17insTCCTATTCTT	NP_001310991.1:n.4709+16_4709+17insTCCTATTCTT
NM_001324063.2:c.4532+16_4532+17insTCCTATTCTT	NP_001310992.1:n.4532+16_4532+17insTCCTATTCTT
NM_001324064.2:c.4217+16_4217+17insTCCTATTCTT	NP_001310993.1:n.4217+16_4217+17insTCCTATTCTT
NM_001324065.2:c.1343+16_1343+17insTCCTATTCTT	NP_001310994.1:n.1343+16_1343+17insTCCTATTCTT