Canonical Allele Identifier: CA2323498919

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647889_12647891delinsCAG , CM000681.2:g.12647889_12647891delinsCAG	GRCh38
NC_000019.9:g.12758703_12758705delinsCAG , CM000681.1:g.12758703_12758705delinsCAG	GRCh37
NC_000019.8:g.12619703_12619705delinsCAG	NCBI36
NG_008318.1:g.23887_23889delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2664+284_2664+286delinsCTG MANE Select	ENSP00000395473.2:n.2664+284_2664+286delinsCTG
ENST00000221363.8:c.2661+284_2661+286delinsCTG	ENSP00000221363.4:n.2661+284_2661+286delinsCTG
ENST00000456935.6:c.2664+284_2664+286delinsCTG	ENSP00000395473.2:n.2664+284_2664+286delinsCTG
ENST00000466794.5:n.3254+284_3254+286delinsCTG
ENST00000597692.1:c.223+284_223+286delinsCTG
NM_000528.3:c.2664+284_2664+286delinsCTG	NP_000519.2:n.2664+284_2664+286delinsCTG
NM_001173498.1:c.2661+284_2661+286delinsCTG	NP_001166969.1:n.2661+284_2661+286delinsCTG
XM_005259913.1:c.2667+284_2667+286delinsCTG	XP_005259970.1:n.2667+284_2667+286delinsCTG
XM_011528017.1:c.1563+284_1563+286delinsCTG	XP_011526319.1:n.1563+284_1563+286delinsCTG
XM_005259913.2:c.2667+284_2667+286delinsCTG	XP_005259970.1:n.2667+284_2667+286delinsCTG
XM_024451518.1:c.1563+284_1563+286delinsCTG	XP_024307286.1:n.1563+284_1563+286delinsCTG
NM_000528.4:c.2664+284_2664+286delinsCTG MANE Select	NP_000519.2:n.2664+284_2664+286delinsCTG
NM_001173498.2:c.2661+284_2661+286delinsCTG	NP_001166969.1:n.2661+284_2661+286delinsCTG