Canonical Allele Identifier: CA2323504123

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657983_12657985delinsAAG , CM000681.2:g.12657983_12657985delinsAAG	GRCh38
NC_000019.9:g.12768797_12768799delinsAAG , CM000681.1:g.12768797_12768799delinsAAG	GRCh37
NC_000019.8:g.12629797_12629799delinsAAG	NCBI36
NG_008318.1:g.13793_13795delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1309+78_1309+80delinsCTT MANE Select	ENSP00000395473.2:n.1309+78_1309+80delinsCTT
ENST00000221363.8:c.1306+78_1306+80delinsCTT	ENSP00000221363.4:n.1306+78_1306+80delinsCTT
ENST00000456935.6:c.1309+78_1309+80delinsCTT	ENSP00000395473.2:n.1309+78_1309+80delinsCTT
ENST00000465830.1:n.473+78_473+80delinsCTT
ENST00000466794.5:n.1208+78_1208+80delinsCTT
ENST00000495617.1:n.281-225_281-223delinsCTT
NM_000528.3:c.1309+78_1309+80delinsCTT	NP_000519.2:n.1309+78_1309+80delinsCTT
NM_001173498.1:c.1306+78_1306+80delinsCTT	NP_001166969.1:n.1306+78_1306+80delinsCTT
XM_005259913.1:c.1312+78_1312+80delinsCTT	XP_005259970.1:n.1312+78_1312+80delinsCTT
XM_011528017.1:c.208+78_208+80delinsCTT	XP_011526319.1:n.208+78_208+80delinsCTT
XM_005259913.2:c.1312+78_1312+80delinsCTT	XP_005259970.1:n.1312+78_1312+80delinsCTT
XM_024451518.1:c.208+78_208+80delinsCTT	XP_024307286.1:n.208+78_208+80delinsCTT
NM_000528.4:c.1309+78_1309+80delinsCTT MANE Select	NP_000519.2:n.1309+78_1309+80delinsCTT
NM_001173498.2:c.1306+78_1306+80delinsCTT	NP_001166969.1:n.1306+78_1306+80delinsCTT