Canonical Allele Identifier: CA993646373

Gene: MAN2B1

Linked Data

• gnomAD v3: 19-12657249-CT-C
• gnomAD v4: 19-12657249-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657250del , CM000681.2:g.12657250del	GRCh38
NC_000019.9:g.12768064del , CM000681.1:g.12768064del	GRCh37
NC_000019.8:g.12629064del	NCBI36
NG_008318.1:g.14528del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1420-194del MANE Select	ENSP00000395473.2:n.1420-194del
ENST00000221363.8:c.1417-194del	ENSP00000221363.4:n.1417-194del
ENST00000456935.6:c.1420-194del	ENSP00000395473.2:n.1420-194del
ENST00000466794.5:n.1319-194del
ENST00000495617.1:n.596-194del
ENST00000593686.1:c.30-194del
ENST00000595880.5:n.16+114del
NM_000528.3:c.1420-194del	NP_000519.2:n.1420-194del
NM_001173498.1:c.1417-194del	NP_001166969.1:n.1417-194del
XM_005259913.1:c.1423-194del	XP_005259970.1:n.1423-194del
XM_011528017.1:c.319-194del	XP_011526319.1:n.319-194del
XM_005259913.2:c.1423-194del	XP_005259970.1:n.1423-194del
XM_024451518.1:c.319-194del	XP_024307286.1:n.319-194del
NM_000528.4:c.1420-194del MANE Select	NP_000519.2:n.1420-194del
NM_001173498.2:c.1417-194del	NP_001166969.1:n.1417-194del