Canonical Allele Identifier: CA638787365
Gene: MN1 HGNC NCBI

Linked Data

dbSNP Id: rs1283317656
gnomAD v2: 22-28146847-G-GGA
gnomAD v3: 22-27750859-G-GGA
gnomAD v4: 22-27750859-G-GGA
MyVariant Identifiers: chr22:g.28146847_28146848insGA (hg19) chr22:g.27750859_27750860insGA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.27750860_27750861dup , CM000684.2:g.27750860_27750861dup GRCh38
NC_000022.10:g.28146848_28146849dup , CM000684.1:g.28146848_28146849dup GRCh37
NC_000022.9:g.26476848_26476849dup NCBI36
NG_023258.1:g.55638_55639dup

Transcript Alleles

HGVS Amino-acid change
ENST00000703102.1:n.542_543dup
ENST00000302326.5:c.*54_*55dup MANE Select ENSP00000304956.4:n.*54_*55dup
ENST00000302326.4:c.*54_*55dup ENSP00000304956.4:n.*54_*55dup
ENST00000424656.1:c.370_371dup
ENST00000497225.1:n.373_374dup
NM_002430.2:c.*54_*55dup NP_002421.3:n.*54_*55dup
NM_002430.3:c.*54_*55dup MANE Select NP_002421.3:n.*54_*55dup
Search 100 bp 5'
Search 100 bp 3'