Canonical Allele Identifier: CA993646307

Gene: MAN2B1

Linked Data

• gnomAD v3: 19-12657236-G-GCCCC
• gnomAD v4: 19-12657236-G-GCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657239_12657240insCCCC , CM000681.2:g.12657239_12657240insCCCC	GRCh38
NC_000019.9:g.12768053_12768054insCCCC , CM000681.1:g.12768053_12768054insCCCC	GRCh37
NC_000019.8:g.12629053_12629054insCCCC	NCBI36
NG_008318.1:g.14541_14542insGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1420-181_1420-180insGGGG MANE Select	ENSP00000395473.2:n.1420-181_1420-180insGGGG
ENST00000221363.8:c.1417-181_1417-180insGGGG	ENSP00000221363.4:n.1417-181_1417-180insGGGG
ENST00000456935.6:c.1420-181_1420-180insGGGG	ENSP00000395473.2:n.1420-181_1420-180insGGGG
ENST00000466794.5:n.1319-181_1319-180insGGGG
ENST00000495617.1:n.596-181_596-180insGGGG
ENST00000593686.1:c.30-181_30-180insGGGG
ENST00000595880.5:n.16+127_16+128insGGGG
NM_000528.3:c.1420-181_1420-180insGGGG	NP_000519.2:n.1420-181_1420-180insGGGG
NM_001173498.1:c.1417-181_1417-180insGGGG	NP_001166969.1:n.1417-181_1417-180insGGGG
XM_005259913.1:c.1423-181_1423-180insGGGG	XP_005259970.1:n.1423-181_1423-180insGGGG
XM_011528017.1:c.319-181_319-180insGGGG	XP_011526319.1:n.319-181_319-180insGGGG
XM_005259913.2:c.1423-181_1423-180insGGGG	XP_005259970.1:n.1423-181_1423-180insGGGG
XM_024451518.1:c.319-181_319-180insGGGG	XP_024307286.1:n.319-181_319-180insGGGG
NM_000528.4:c.1420-181_1420-180insGGGG MANE Select	NP_000519.2:n.1420-181_1420-180insGGGG
NM_001173498.2:c.1417-181_1417-180insGGGG	NP_001166969.1:n.1417-181_1417-180insGGGG