Canonical Allele Identifier: CA638787348

Gene: MN1

Linked Data

• dbSNP Id: rs377485634
• gnomAD v2: 22-28146769-G-GAA
• gnomAD v3: 22-27750781-G-GAA
• gnomAD v4: 22-27750781-G-GAA
• MyVariant Identifiers: chr22:g.28146770_28146771insAA (hg19) ; chr22:g.27750782_27750783insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.27750792_27750793dup , CM000684.2:g.27750792_27750793dup	GRCh38
NC_000022.10:g.28146780_28146781dup , CM000684.1:g.28146780_28146781dup	GRCh37
NC_000022.9:g.26476780_26476781dup	NCBI36
NG_023258.1:g.55716_55717dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703102.1:n.620_621dup
ENST00000302326.5:c.*132_*133dup MANE Select	ENSP00000304956.4:n.*132_*133dup
ENST00000302326.4:c.*132_*133dup	ENSP00000304956.4:n.*132_*133dup
ENST00000424656.1:c.448_449dup
ENST00000497225.1:n.451_452dup
NM_002430.2:c.*132_*133dup	NP_002421.3:n.*132_*133dup
NM_002430.3:c.*132_*133dup MANE Select	NP_002421.3:n.*132_*133dup