Canonical Allele Identifier: CA2323503595

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657207_12657208delinsAT , CM000681.2:g.12657207_12657208delinsAT	GRCh38
NC_000019.9:g.12768021_12768022delinsAT , CM000681.1:g.12768021_12768022delinsAT	GRCh37
NC_000019.8:g.12629021_12629022delinsAT	NCBI36
NG_008318.1:g.14570_14571delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1420-152_1420-151delinsAT MANE Select	ENSP00000395473.2:n.1420-152_1420-151delinsAT
ENST00000221363.8:c.1417-152_1417-151delinsAT	ENSP00000221363.4:n.1417-152_1417-151delinsAT
ENST00000433513.5:n.25+3_25+4delinsAT
ENST00000456935.6:c.1420-152_1420-151delinsAT	ENSP00000395473.2:n.1420-152_1420-151delinsAT
ENST00000466794.5:n.1319-152_1319-151delinsAT
ENST00000495617.1:n.596-152_596-151delinsAT
ENST00000593686.1:c.30-152_30-151delinsAT
ENST00000595880.5:n.17-152_17-151delinsAT
NM_000528.3:c.1420-152_1420-151delinsAT	NP_000519.2:n.1420-152_1420-151delinsAT
NM_001173498.1:c.1417-152_1417-151delinsAT	NP_001166969.1:n.1417-152_1417-151delinsAT
XM_005259913.1:c.1423-152_1423-151delinsAT	XP_005259970.1:n.1423-152_1423-151delinsAT
XM_011528017.1:c.319-152_319-151delinsAT	XP_011526319.1:n.319-152_319-151delinsAT
XM_005259913.2:c.1423-152_1423-151delinsAT	XP_005259970.1:n.1423-152_1423-151delinsAT
XM_024451518.1:c.319-152_319-151delinsAT	XP_024307286.1:n.319-152_319-151delinsAT
NM_000528.4:c.1420-152_1420-151delinsAT MANE Select	NP_000519.2:n.1420-152_1420-151delinsAT
NM_001173498.2:c.1417-152_1417-151delinsAT	NP_001166969.1:n.1417-152_1417-151delinsAT