Canonical Allele Identifier: CA2576635317

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665808_12665810del , CM000681.2:g.12665808_12665810del	GRCh38
NC_000019.9:g.12776622_12776624del , CM000681.1:g.12776622_12776624del	GRCh37
NC_000019.8:g.12637622_12637624del	NCBI36
NG_008318.1:g.5968_5970del
NG_015814.1:g.4005_4007del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.160-5_160-3del MANE Select	ENSP00000395473.2:n.160-5_160-3del
ENST00000221363.8:c.160-5_160-3del	ENSP00000221363.4:n.160-5_160-3del
ENST00000456935.6:c.160-5_160-3del	ENSP00000395473.2:n.160-5_160-3del
ENST00000466794.5:n.142-5_142-3del
ENST00000486847.2:c.160-285_160-283del	ENSP00000470174.1:n.160-285_160-283del
ENST00000596512.5:n.201-285_201-283del
ENST00000597961.1:c.151-5_151-3del	ENSP00000472710.1:n.151-5_151-3del
ENST00000598876.1:c.182_184del	ENSP00000470533.1:p.Val61_Gln62delinsGlu
ENST00000600281.1:n.201-5_201-3del
NM_000528.3:c.160-5_160-3del	NP_000519.2:n.160-5_160-3del
NM_001173498.1:c.160-5_160-3del	NP_001166969.1:n.160-5_160-3del
XM_005259913.1:c.160-5_160-3del	XP_005259970.1:n.160-5_160-3del
XM_005259913.2:c.160-5_160-3del	XP_005259970.1:n.160-5_160-3del
XM_024451518.1:c.-859-5_-859-3del	XP_024307286.1:n.-859-5_-859-3del
NM_000528.4:c.160-5_160-3del MANE Select	NP_000519.2:n.160-5_160-3del
NM_001173498.2:c.160-5_160-3del	NP_001166969.1:n.160-5_160-3del