Canonical Allele Identifier: CA2323499577

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649198_12649199delinsTC , CM000681.2:g.12649198_12649199delinsTC	GRCh38
NC_000019.9:g.12760012_12760013delinsTC , CM000681.1:g.12760012_12760013delinsTC	GRCh37
NC_000019.8:g.12621012_12621013delinsTC	NCBI36
NG_008318.1:g.22579_22580delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2373_2374delinsGA MANE Select	ENSP00000395473.2:p.Leu791=
ENST00000221363.8:c.2370_2371delinsGA	ENSP00000221363.4:p.Leu790=
ENST00000456935.6:c.2373_2374delinsGA	ENSP00000395473.2:p.Leu791=
ENST00000466794.5:n.2963_2964delinsGA
NM_000528.3:c.2373_2374delinsGA	NP_000519.2:p.Leu791=
NM_001173498.1:c.2370_2371delinsGA	NP_001166969.1:p.Leu790=
XM_005259913.1:c.2376_2377delinsGA	XP_005259970.1:p.Leu792=
XM_011528017.1:c.1272_1273delinsGA	XP_011526319.1:p.Leu424=
XM_005259913.2:c.2376_2377delinsGA	XP_005259970.1:p.Leu792=
XM_024451518.1:c.1272_1273delinsGA	XP_024307286.1:p.Leu424=
NM_000528.4:c.2373_2374delinsGA MANE Select	NP_000519.2:p.Leu791=
NM_001173498.2:c.2370_2371delinsGA	NP_001166969.1:p.Leu790=