Canonical Allele Identifier: CA2399818148
Gene: MN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.27751038_27751039delinsGC , CM000684.2:g.27751038_27751039delinsGC GRCh38
NC_000022.10:g.28147026_28147027delinsGC , CM000684.1:g.28147026_28147027delinsGC GRCh37
NC_000022.9:g.26477026_26477027delinsGC NCBI36
NG_023258.1:g.55460_55461delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000703102.1:n.364_365delinsGC
ENST00000302326.5:c.3839_3840delinsGC MANE Select ENSP00000304956.4:p.Cys1280=
ENST00000302326.4:c.3839_3840delinsGC ENSP00000304956.4:p.Cys1280=
ENST00000424656.1:c.192_193delinsGC
ENST00000497225.1:n.195_196delinsGC
NM_002430.2:c.3839_3840delinsGC NP_002421.3:p.Cys1280=
NM_002430.3:c.3839_3840delinsGC MANE Select NP_002421.3:p.Cys1280=