Canonical Allele Identifier: CA2399818060
Gene: MN1 HGNC NCBI

Linked Data

dbSNP Id: rs1761594669
gnomAD v4: 22-27750868-CAG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.27750869_27750870del , CM000684.2:g.27750869_27750870del GRCh38
NC_000022.10:g.28146857_28146858del , CM000684.1:g.28146857_28146858del GRCh37
NC_000022.9:g.26476857_26476858del NCBI36
NG_023258.1:g.55629_55630del

Transcript Alleles

HGVS Amino-acid change
ENST00000703102.1:n.533_534del
ENST00000302326.5:c.*45_*46del MANE Select ENSP00000304956.4:n.*45_*46del
ENST00000302326.4:c.*45_*46del ENSP00000304956.4:n.*45_*46del
ENST00000424656.1:c.361_362del
ENST00000497225.1:n.364_365del
NM_002430.2:c.*45_*46del NP_002421.3:n.*45_*46del
NM_002430.3:c.*45_*46del MANE Select NP_002421.3:n.*45_*46del
Search 100 bp 5'
Search 100 bp 3'