Canonical Allele Identifier: CA993664461

Gene: MAN2B1

Linked Data

• gnomAD v3: 19-12647896-TG-T
• gnomAD v4: 19-12647896-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647901del , CM000681.2:g.12647901del	GRCh38
NC_000019.9:g.12758715del , CM000681.1:g.12758715del	GRCh37
NC_000019.8:g.12619715del	NCBI36
NG_008318.1:g.23881del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2664+278del MANE Select	ENSP00000395473.2:n.2664+278del
ENST00000221363.8:c.2661+278del	ENSP00000221363.4:n.2661+278del
ENST00000456935.6:c.2664+278del	ENSP00000395473.2:n.2664+278del
ENST00000466794.5:n.3254+278del
ENST00000597692.1:c.223+278del
NM_000528.3:c.2664+278del	NP_000519.2:n.2664+278del
NM_001173498.1:c.2661+278del	NP_001166969.1:n.2661+278del
XM_005259913.1:c.2667+278del	XP_005259970.1:n.2667+278del
XM_011528017.1:c.1563+278del	XP_011526319.1:n.1563+278del
XM_005259913.2:c.2667+278del	XP_005259970.1:n.2667+278del
XM_024451518.1:c.1563+278del	XP_024307286.1:n.1563+278del
NM_000528.4:c.2664+278del MANE Select	NP_000519.2:n.2664+278del
NM_001173498.2:c.2661+278del	NP_001166969.1:n.2661+278del