Canonical Allele Identifier: CA2581952557

Gene: MAN2B1

Linked Data

• gnomAD v3: 19-12657954-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
• gnomAD v4: 19-12657954-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657981_12657982insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000681.2:g.12657981_12657982insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000019.9:g.12768795_12768796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000681.1:g.12768795_12768796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000019.8:g.12629795_12629796insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NCBI36
NG_008318.1:g.13823_13824insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1309+108_1309+109insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000395473.2:n.1309+108_1309+109insTTTTTTTTTTTTTTTTTTTTT...
ENST00000221363.8:c.1306+108_1306+109insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000221363.4:n.1306+108_1306+109insTTTTTTTTTTTTTTTTTTTTT...
ENST00000456935.6:c.1309+108_1309+109insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000395473.2:n.1309+108_1309+109insTTTTTTTTTTTTTTTTTTTTT...
ENST00000465830.1:n.473+108_473+109insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000466794.5:n.1208+108_1208+109insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000495617.1:n.281-195_281-194insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NM_000528.3:c.1309+108_1309+109insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_000519.2:n.1309+108_1309+109insTTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001173498.1:c.1306+108_1306+109insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001166969.1:n.1306+108_1306+109insTTTTTTTTTTTTTTTTTTTTTTTT...
XM_005259913.1:c.1312+108_1312+109insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_005259970.1:n.1312+108_1312+109insTTTTTTTTTTTTTTTTTTTTTTTT...
XM_011528017.1:c.208+108_208+109insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011526319.1:n.208+108_208+109insTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_005259913.2:c.1312+108_1312+109insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_005259970.1:n.1312+108_1312+109insTTTTTTTTTTTTTTTTTTTTTTTT...
XM_024451518.1:c.208+108_208+109insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_024307286.1:n.208+108_208+109insTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_000528.4:c.1309+108_1309+109insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	NP_000519.2:n.1309+108_1309+109insTTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001173498.2:c.1306+108_1306+109insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001166969.1:n.1306+108_1306+109insTTTTTTTTTTTTTTTTTTTTTTTT...