Canonical Allele Identifier: CA1139666990
Gene: MN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 979063
ClinVar RCV Id: RCV001258026
dbSNP Id: rs1932758837
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.27750985_27750986dup , CM000684.2:g.27750985_27750986dup GRCh38
NC_000022.10:g.28146973_28146974dup , CM000684.1:g.28146973_28146974dup GRCh37
NC_000022.9:g.26476973_26476974dup NCBI36
NG_023258.1:g.55514_55515dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000703102.1:n.418_419dup
ENST00000302326.5:c.3893_3894dup MANE Select ENSP00000304956.4:p.Pro1299CysfsTer22
ENST00000302326.4:c.3893_3894dup ENSP00000304956.4:p.Pro1299CysfsTer22
ENST00000424656.1:c.246_247dup
ENST00000497225.1:n.249_250dup
NM_002430.2:c.3893_3894dup NP_002421.3:p.Pro1299CysfsTer22
NM_002430.3:c.3893_3894dup MANE Select NP_002421.3:p.Pro1299CysfsTer22
Search 100 bp 5'
Search 100 bp 3'