Canonical Allele Identifier: CA2511408356

Gene: MN1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.27750452_27750453insCAAAAAAAACC , CM000684.2:g.27750452_27750453insCAAAAAAAACC	GRCh38
NC_000022.10:g.28146440_28146441insCAAAAAAAACC , CM000684.1:g.28146440_28146441insCAAAAAAAACC	GRCh37
NC_000022.9:g.26476440_26476441insCAAAAAAAACC	NCBI36
NG_023258.1:g.56046_56047insGGTTTTTTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703102.1:n.950_951insGGTTTTTTTTG
ENST00000302326.5:c.*462_*463insGGTTTTTTTTG MANE Select	ENSP00000304956.4:n.*462_*463insGGTTTTTTTTG
ENST00000302326.4:c.*462_*463insGGTTTTTTTTG	ENSP00000304956.4:n.*462_*463insGGTTTTTTTTG
ENST00000424656.1:c.456-225_456-224insGGTTTTTTTTG
NM_002430.2:c.*462_*463insGGTTTTTTTTG	NP_002421.3:n.*462_*463insGGTTTTTTTTG
NM_002430.3:c.*462_*463insGGTTTTTTTTG MANE Select	NP_002421.3:n.*462_*463insGGTTTTTTTTG