Canonical Allele Identifier: CA2582720392

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12657247-G-GCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657249_12657250insCCCC , CM000681.2:g.12657249_12657250insCCCC	GRCh38
NC_000019.9:g.12768063_12768064insCCCC , CM000681.1:g.12768063_12768064insCCCC	GRCh37
NC_000019.8:g.12629063_12629064insCCCC	NCBI36
NG_008318.1:g.14530_14531insGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1420-192_1420-191insGGGG MANE Select	ENSP00000395473.2:n.1420-192_1420-191insGGGG
ENST00000221363.8:c.1417-192_1417-191insGGGG	ENSP00000221363.4:n.1417-192_1417-191insGGGG
ENST00000456935.6:c.1420-192_1420-191insGGGG	ENSP00000395473.2:n.1420-192_1420-191insGGGG
ENST00000466794.5:n.1319-192_1319-191insGGGG
ENST00000495617.1:n.596-192_596-191insGGGG
ENST00000593686.1:c.30-192_30-191insGGGG
ENST00000595880.5:n.16+116_16+117insGGGG
NM_000528.3:c.1420-192_1420-191insGGGG	NP_000519.2:n.1420-192_1420-191insGGGG
NM_001173498.1:c.1417-192_1417-191insGGGG	NP_001166969.1:n.1417-192_1417-191insGGGG
XM_005259913.1:c.1423-192_1423-191insGGGG	XP_005259970.1:n.1423-192_1423-191insGGGG
XM_011528017.1:c.319-192_319-191insGGGG	XP_011526319.1:n.319-192_319-191insGGGG
XM_005259913.2:c.1423-192_1423-191insGGGG	XP_005259970.1:n.1423-192_1423-191insGGGG
XM_024451518.1:c.319-192_319-191insGGGG	XP_024307286.1:n.319-192_319-191insGGGG
NM_000528.4:c.1420-192_1420-191insGGGG MANE Select	NP_000519.2:n.1420-192_1420-191insGGGG
NM_001173498.2:c.1417-192_1417-191insGGGG	NP_001166969.1:n.1417-192_1417-191insGGGG