Canonical Allele Identifier: CA993646315

Gene: MAN2B1

Linked Data

• gnomAD v3: 19-12657240-A-ACCCC
• gnomAD v4: 19-12657240-A-ACCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657241_12657242insCCCC , CM000681.2:g.12657241_12657242insCCCC	GRCh38
NC_000019.9:g.12768055_12768056insCCCC , CM000681.1:g.12768055_12768056insCCCC	GRCh37
NC_000019.8:g.12629055_12629056insCCCC	NCBI36
NG_008318.1:g.14537_14538insGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1420-185_1420-184insGGGG MANE Select	ENSP00000395473.2:n.1420-185_1420-184insGGGG
ENST00000221363.8:c.1417-185_1417-184insGGGG	ENSP00000221363.4:n.1417-185_1417-184insGGGG
ENST00000456935.6:c.1420-185_1420-184insGGGG	ENSP00000395473.2:n.1420-185_1420-184insGGGG
ENST00000466794.5:n.1319-185_1319-184insGGGG
ENST00000495617.1:n.596-185_596-184insGGGG
ENST00000593686.1:c.30-185_30-184insGGGG
ENST00000595880.5:n.16+123_16+124insGGGG
NM_000528.3:c.1420-185_1420-184insGGGG	NP_000519.2:n.1420-185_1420-184insGGGG
NM_001173498.1:c.1417-185_1417-184insGGGG	NP_001166969.1:n.1417-185_1417-184insGGGG
XM_005259913.1:c.1423-185_1423-184insGGGG	XP_005259970.1:n.1423-185_1423-184insGGGG
XM_011528017.1:c.319-185_319-184insGGGG	XP_011526319.1:n.319-185_319-184insGGGG
XM_005259913.2:c.1423-185_1423-184insGGGG	XP_005259970.1:n.1423-185_1423-184insGGGG
XM_024451518.1:c.319-185_319-184insGGGG	XP_024307286.1:n.319-185_319-184insGGGG
NM_000528.4:c.1420-185_1420-184insGGGG MANE Select	NP_000519.2:n.1420-185_1420-184insGGGG
NM_001173498.2:c.1417-185_1417-184insGGGG	NP_001166969.1:n.1417-185_1417-184insGGGG