Canonical Allele Identifier: CA2576635119

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12657977-AAAAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657980_12657984del , CM000681.2:g.12657980_12657984del	GRCh38
NC_000019.9:g.12768794_12768798del , CM000681.1:g.12768794_12768798del	GRCh37
NC_000019.8:g.12629794_12629798del	NCBI36
NG_008318.1:g.13796_13800del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1309+81_1309+85del MANE Select	ENSP00000395473.2:n.1309+81_1309+85del
ENST00000221363.8:c.1306+81_1306+85del	ENSP00000221363.4:n.1306+81_1306+85del
ENST00000456935.6:c.1309+81_1309+85del	ENSP00000395473.2:n.1309+81_1309+85del
ENST00000465830.1:n.473+81_473+85del
ENST00000466794.5:n.1208+81_1208+85del
ENST00000495617.1:n.281-222_281-218del
NM_000528.3:c.1309+81_1309+85del	NP_000519.2:n.1309+81_1309+85del
NM_001173498.1:c.1306+81_1306+85del	NP_001166969.1:n.1306+81_1306+85del
XM_005259913.1:c.1312+81_1312+85del	XP_005259970.1:n.1312+81_1312+85del
XM_011528017.1:c.208+81_208+85del	XP_011526319.1:n.208+81_208+85del
XM_005259913.2:c.1312+81_1312+85del	XP_005259970.1:n.1312+81_1312+85del
XM_024451518.1:c.208+81_208+85del	XP_024307286.1:n.208+81_208+85del
NM_000528.4:c.1309+81_1309+85del MANE Select	NP_000519.2:n.1309+81_1309+85del
NM_001173498.2:c.1306+81_1306+85del	NP_001166969.1:n.1306+81_1306+85del