Canonical Allele Identifier: CA993664482

Gene: MAN2B1

Linked Data

• gnomAD v3: 19-12647913-C-CGGGGGGGGGGGGGGGGGGG
• gnomAD v4: 19-12647913-C-CGGGGGGGGGGGGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647917_12647918insGGGGGGGGGGGGGGGGGGG , CM000681.2:g.12647917_12647918insGGGGGGGGGGGGGGGGGGG	GRCh38
NC_000019.9:g.12758731_12758732insGGGGGGGGGGGGGGGGGGG , CM000681.1:g.12758731_12758732insGGGGGGGGGGGGGGGGGGG	GRCh37
NC_000019.8:g.12619731_12619732insGGGGGGGGGGGGGGGGGGG	NCBI36
NG_008318.1:g.23864_23865insCCCCCCCCCCCCCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2664+261_2664+262insCCCCCCCCCCCCCCCCCCC MANE Select	ENSP00000395473.2:n.2664+261_2664+262insCCCCCCCCCCCCCCCCCCC
ENST00000221363.8:c.2661+261_2661+262insCCCCCCCCCCCCCCCCCCC	ENSP00000221363.4:n.2661+261_2661+262insCCCCCCCCCCCCCCCCCCC
ENST00000456935.6:c.2664+261_2664+262insCCCCCCCCCCCCCCCCCCC	ENSP00000395473.2:n.2664+261_2664+262insCCCCCCCCCCCCCCCCCCC
ENST00000466794.5:n.3254+261_3254+262insCCCCCCCCCCCCCCCCCCC
ENST00000597692.1:c.223+261_223+262insCCCCCCCCCCCCCCCCCCC
NM_000528.3:c.2664+261_2664+262insCCCCCCCCCCCCCCCCCCC	NP_000519.2:n.2664+261_2664+262insCCCCCCCCCCCCCCCCCCC
NM_001173498.1:c.2661+261_2661+262insCCCCCCCCCCCCCCCCCCC	NP_001166969.1:n.2661+261_2661+262insCCCCCCCCCCCCCCCCCCC
XM_005259913.1:c.2667+261_2667+262insCCCCCCCCCCCCCCCCCCC	XP_005259970.1:n.2667+261_2667+262insCCCCCCCCCCCCCCCCCCC
XM_011528017.1:c.1563+261_1563+262insCCCCCCCCCCCCCCCCCCC	XP_011526319.1:n.1563+261_1563+262insCCCCCCCCCCCCCCCCCCC
XM_005259913.2:c.2667+261_2667+262insCCCCCCCCCCCCCCCCCCC	XP_005259970.1:n.2667+261_2667+262insCCCCCCCCCCCCCCCCCCC
XM_024451518.1:c.1563+261_1563+262insCCCCCCCCCCCCCCCCCCC	XP_024307286.1:n.1563+261_1563+262insCCCCCCCCCCCCCCCCCCC
NM_000528.4:c.2664+261_2664+262insCCCCCCCCCCCCCCCCCCC MANE Select	NP_000519.2:n.2664+261_2664+262insCCCCCCCCCCCCCCCCCCC
NM_001173498.2:c.2661+261_2661+262insCCCCCCCCCCCCCCCCCCC	NP_001166969.1:n.2661+261_2661+262insCCCCCCCCCCCCCCCCCCC