Canonical Allele Identifier: CA2589684366
Gene: MN1 HGNC NCBI

Linked Data

dbSNP Id: rs2123872730
gnomAD v3: 22-27750384-CCCGG-C
gnomAD v4: 22-27750384-CCCGG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.27750386_27750389del , CM000684.2:g.27750386_27750389del GRCh38
NC_000022.10:g.28146374_28146377del , CM000684.1:g.28146374_28146377del GRCh37
NC_000022.9:g.26476374_26476377del NCBI36
NG_023258.1:g.56111_56114del

Transcript Alleles

HGVS Amino-acid Change
ENST00000703102.1:n.1015_1018del
ENST00000302326.5:c.*527_*530del MANE Select ENSP00000304956.4:n.*527_*530del
ENST00000302326.4:c.*527_*530del ENSP00000304956.4:n.*527_*530del
ENST00000424656.1:c.456-160_456-157del
NM_002430.2:c.*527_*530del NP_002421.3:n.*527_*530del
NM_002430.3:c.*527_*530del MANE Select NP_002421.3:n.*527_*530del
Search 100 bp 5'
Search 100 bp 3'