Canonical Allele Identifier: CA322870676
Gene: MN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1265884
ClinVar RCV Id: RCV001675180
dbSNP Id: rs11379447
gnomAD v2: 22-28146768-A-AG
gnomAD v3: 22-27750780-A-AG
gnomAD v4: 22-27750780-A-AG
COSMIC: COSN20117318 COSN20117319
MyVariant Identifiers: chr22:g.28146769_28146770insG (hg19) chr22:g.28146768_28146769insG (hg19) chr22:g.27750781_27750782insG (hg38) chr22:g.27750780_27750781insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.27750781dup , CM000684.2:g.27750781dup GRCh38
NC_000022.10:g.28146769dup , CM000684.1:g.28146769dup GRCh37
NC_000022.9:g.26476769dup NCBI36
NG_023258.1:g.55718dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000703102.1:n.622dup
ENST00000302326.5:c.*134dup MANE Select ENSP00000304956.4:n.*134dup
ENST00000302326.4:c.*134dup ENSP00000304956.4:n.*134dup
ENST00000424656.1:c.450dup
ENST00000497225.1:n.453dup
NM_002430.2:c.*134dup NP_002421.3:n.*134dup
NM_002430.3:c.*134dup MANE Select NP_002421.3:n.*134dup
Search 100 bp 5'
Search 100 bp 3'