Canonical Allele Identifier: CA1139666991

Gene: MN1

Linked Data

• ClinVar Variation Id: 979062
• ClinVar RCV Id: RCV001258023
• dbSNP Id: rs1932759453

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.27751028_27751029delinsT , CM000684.2:g.27751028_27751029delinsT	GRCh38
NC_000022.10:g.28147016_28147017delinsT , CM000684.1:g.28147016_28147017delinsT	GRCh37
NC_000022.9:g.26477016_26477017delinsT	NCBI36
NG_023258.1:g.55470_55471delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703102.1:n.374_375delinsA
ENST00000302326.5:c.3849_3850delinsA MANE Select	ENSP00000304956.4:p.His1284ThrfsTer?
ENST00000302326.4:c.3849_3850delinsA	ENSP00000304956.4:p.His1284ThrfsTer?
ENST00000424656.1:c.202_203delinsA
ENST00000497225.1:n.205_206delinsA
NM_002430.2:c.3849_3850delinsA	NP_002421.3:p.His1284ThrfsTer?
NM_002430.3:c.3849_3850delinsA MANE Select	NP_002421.3:p.His1284ThrfsTer?