Canonical Allele Identifier: CA638787343

Gene: MN1

Linked Data

• dbSNP Id: rs1161818634
• gnomAD v2: 22-28146767-G-GA
• gnomAD v3: 22-27750779-G-GA
• gnomAD v4: 22-27750779-G-GA
• MyVariant Identifiers: chr22:g.28146767_28146768insA (hg19) ; chr22:g.27750779_27750780insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.27750780dup , CM000684.2:g.27750780dup	GRCh38
NC_000022.10:g.28146768dup , CM000684.1:g.28146768dup	GRCh37
NC_000022.9:g.26476768dup	NCBI36
NG_023258.1:g.55719dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703102.1:n.623dup
ENST00000302326.5:c.*135dup MANE Select	ENSP00000304956.4:n.*135dup
ENST00000302326.4:c.*135dup	ENSP00000304956.4:n.*135dup
ENST00000424656.1:c.451dup
ENST00000497225.1:n.454dup
NM_002430.2:c.*135dup	NP_002421.3:n.*135dup
NM_002430.3:c.*135dup MANE Select	NP_002421.3:n.*135dup