Canonical Allele Identifier: CA322870565
Gene: MN1 HGNC NCBI

Linked Data

dbSNP Id: rs923922569
gnomAD v3: 22-27750507-CTT-C
gnomAD v4: 22-27750507-CTT-C
MyVariant Identifiers: chr22:g.28146496_28146497del (hg19) chr22:g.27750508_27750509del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.27750508_27750509del , CM000684.2:g.27750508_27750509del GRCh38
NC_000022.10:g.28146496_28146497del , CM000684.1:g.28146496_28146497del GRCh37
NC_000022.9:g.26476496_26476497del NCBI36
NG_023258.1:g.55990_55991del

Transcript Alleles

HGVS Amino-acid Change
ENST00000703102.1:n.894_895del
ENST00000302326.5:c.*406_*407del MANE Select ENSP00000304956.4:n.*406_*407del
ENST00000302326.4:c.*406_*407del ENSP00000304956.4:n.*406_*407del
ENST00000424656.1:c.455+267_455+268del
NM_002430.2:c.*406_*407del NP_002421.3:n.*406_*407del
NM_002430.3:c.*406_*407del MANE Select NP_002421.3:n.*406_*407del
Search 100 bp 5'
Search 100 bp 3'