Canonical Allele Identifier: CA322870679
Gene: MN1 HGNC NCBI

Linked Data

dbSNP Id: rs752475755
gnomAD v3: 22-27750780-AG-A
gnomAD v4: 22-27750780-AG-A
MyVariant Identifiers: chr22:g.28146769del (hg19) chr22:g.27750781del (hg38)
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Genomic Alleles

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

Transcript Alleles

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