Canonical Allele Identifier: CA2323500411

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650647_12650648delinsCG , CM000681.2:g.12650647_12650648delinsCG	GRCh38
NC_000019.9:g.12761461_12761462delinsCG , CM000681.1:g.12761461_12761462delinsCG	GRCh37
NC_000019.8:g.12622461_12622462delinsCG	NCBI36
NG_008318.1:g.21130_21131delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2047-426_2047-425delinsCG MANE Select	ENSP00000395473.2:n.2047-426_2047-425delinsCG
ENST00000221363.8:c.2044-426_2044-425delinsCG	ENSP00000221363.4:n.2044-426_2044-425delinsCG
ENST00000456935.6:c.2047-426_2047-425delinsCG	ENSP00000395473.2:n.2047-426_2047-425delinsCG
ENST00000466794.5:n.2637-426_2637-425delinsCG
NM_000528.3:c.2047-426_2047-425delinsCG	NP_000519.2:n.2047-426_2047-425delinsCG
NM_001173498.1:c.2044-426_2044-425delinsCG	NP_001166969.1:n.2044-426_2044-425delinsCG
XM_005259913.1:c.2050-426_2050-425delinsCG	XP_005259970.1:n.2050-426_2050-425delinsCG
XM_011528017.1:c.946-426_946-425delinsCG	XP_011526319.1:n.946-426_946-425delinsCG
XM_005259913.2:c.2050-426_2050-425delinsCG	XP_005259970.1:n.2050-426_2050-425delinsCG
XM_024451518.1:c.946-426_946-425delinsCG	XP_024307286.1:n.946-426_946-425delinsCG
NM_000528.4:c.2047-426_2047-425delinsCG MANE Select	NP_000519.2:n.2047-426_2047-425delinsCG
NM_001173498.2:c.2044-426_2044-425delinsCG	NP_001166969.1:n.2044-426_2044-425delinsCG