Canonical Allele Identifier: CA10165927
Gene: MN1 HGNC NCBI

Linked Data

dbSNP Id: rs773674938
ExAC: 22:28146889 ATCTT / A
gnomAD v2: 22-28146889-ATCTT-A
gnomAD v3: 22-27750901-ATCTT-A
gnomAD v4: 22-27750901-ATCTT-A
MyVariant Identifiers: chr22:g.28146890_28146893del (hg19) chr22:g.27750903_27750906del (hg38) chr22:g.27750902_27750905del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.27750906_27750909del , CM000684.2:g.27750906_27750909del GRCh38
NC_000022.10:g.28146894_28146897del , CM000684.1:g.28146894_28146897del GRCh37
NC_000022.9:g.26476894_26476897del NCBI36
NG_023258.1:g.55594_55597del

Transcript Alleles

HGVS Amino-acid Change
ENST00000703102.1:n.498_501del
ENST00000302326.5:c.*10_*13del MANE Select ENSP00000304956.4:n.*10_*13del
ENST00000302326.4:c.*10_*13del ENSP00000304956.4:n.*10_*13del
ENST00000424656.1:c.326_329del
ENST00000497225.1:n.329_332del
NM_002430.2:c.*10_*13del NP_002421.3:n.*10_*13del
NM_002430.3:c.*10_*13del MANE Select NP_002421.3:n.*10_*13del
Search 100 bp 5'
Search 100 bp 3'