Canonical Allele Identifier: CA2323504007

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657847_12657848delinsCG , CM000681.2:g.12657847_12657848delinsCG	GRCh38
NC_000019.9:g.12768661_12768662delinsCG , CM000681.1:g.12768661_12768662delinsCG	GRCh37
NC_000019.8:g.12629661_12629662delinsCG	NCBI36
NG_008318.1:g.13930_13931delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1309+215_1309+216delinsCG MANE Select	ENSP00000395473.2:n.1309+215_1309+216delinsCG
ENST00000221363.8:c.1306+215_1306+216delinsCG	ENSP00000221363.4:n.1306+215_1306+216delinsCG
ENST00000456935.6:c.1309+215_1309+216delinsCG	ENSP00000395473.2:n.1309+215_1309+216delinsCG
ENST00000465830.1:n.473+215_473+216delinsCG
ENST00000466794.5:n.1208+215_1208+216delinsCG
ENST00000495617.1:n.281-88_281-87delinsCG
NM_000528.3:c.1309+215_1309+216delinsCG	NP_000519.2:n.1309+215_1309+216delinsCG
NM_001173498.1:c.1306+215_1306+216delinsCG	NP_001166969.1:n.1306+215_1306+216delinsCG
XM_005259913.1:c.1312+215_1312+216delinsCG	XP_005259970.1:n.1312+215_1312+216delinsCG
XM_011528017.1:c.208+215_208+216delinsCG	XP_011526319.1:n.208+215_208+216delinsCG
XM_005259913.2:c.1312+215_1312+216delinsCG	XP_005259970.1:n.1312+215_1312+216delinsCG
XM_024451518.1:c.208+215_208+216delinsCG	XP_024307286.1:n.208+215_208+216delinsCG
NM_000528.4:c.1309+215_1309+216delinsCG MANE Select	NP_000519.2:n.1309+215_1309+216delinsCG
NM_001173498.2:c.1306+215_1306+216delinsCG	NP_001166969.1:n.1306+215_1306+216delinsCG