Canonical Allele Identifier: CA2582720929

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12657989-CTCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657990_12657992del , CM000681.2:g.12657990_12657992del	GRCh38
NC_000019.9:g.12768804_12768806del , CM000681.1:g.12768804_12768806del	GRCh37
NC_000019.8:g.12629804_12629806del	NCBI36
NG_008318.1:g.13786_13788del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1309+71_1309+73del MANE Select	ENSP00000395473.2:n.1309+71_1309+73del
ENST00000221363.8:c.1306+71_1306+73del	ENSP00000221363.4:n.1306+71_1306+73del
ENST00000456935.6:c.1309+71_1309+73del	ENSP00000395473.2:n.1309+71_1309+73del
ENST00000465830.1:n.473+71_473+73del
ENST00000466794.5:n.1208+71_1208+73del
ENST00000495617.1:n.281-232_281-230del
NM_000528.3:c.1309+71_1309+73del	NP_000519.2:n.1309+71_1309+73del
NM_001173498.1:c.1306+71_1306+73del	NP_001166969.1:n.1306+71_1306+73del
XM_005259913.1:c.1312+71_1312+73del	XP_005259970.1:n.1312+71_1312+73del
XM_011528017.1:c.208+71_208+73del	XP_011526319.1:n.208+71_208+73del
XM_005259913.2:c.1312+71_1312+73del	XP_005259970.1:n.1312+71_1312+73del
XM_024451518.1:c.208+71_208+73del	XP_024307286.1:n.208+71_208+73del
NM_000528.4:c.1309+71_1309+73del MANE Select	NP_000519.2:n.1309+71_1309+73del
NM_001173498.2:c.1306+71_1306+73del	NP_001166969.1:n.1306+71_1306+73del