Canonical Allele Identifier: CA2582720534

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12657418-CGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657421_12657422del , CM000681.2:g.12657421_12657422del	GRCh38
NC_000019.9:g.12768235_12768236del , CM000681.1:g.12768235_12768236del	GRCh37
NC_000019.8:g.12629235_12629236del	NCBI36
NG_008318.1:g.14358_14359del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1419+26_1419+27del MANE Select	ENSP00000395473.2:n.1419+26_1419+27del
ENST00000221363.8:c.1416+26_1416+27del	ENSP00000221363.4:n.1416+26_1416+27del
ENST00000456935.6:c.1419+26_1419+27del	ENSP00000395473.2:n.1419+26_1419+27del
ENST00000466794.5:n.1318+26_1318+27del
ENST00000495617.1:n.595+26_595+27del
ENST00000593686.1:c.29+26_29+27del
NM_000528.3:c.1419+26_1419+27del	NP_000519.2:n.1419+26_1419+27del
NM_001173498.1:c.1416+26_1416+27del	NP_001166969.1:n.1416+26_1416+27del
XM_005259913.1:c.1422+26_1422+27del	XP_005259970.1:n.1422+26_1422+27del
XM_011528017.1:c.318+26_318+27del	XP_011526319.1:n.318+26_318+27del
XM_005259913.2:c.1422+26_1422+27del	XP_005259970.1:n.1422+26_1422+27del
XM_024451518.1:c.318+26_318+27del	XP_024307286.1:n.318+26_318+27del
NM_000528.4:c.1419+26_1419+27del MANE Select	NP_000519.2:n.1419+26_1419+27del
NM_001173498.2:c.1416+26_1416+27del	NP_001166969.1:n.1416+26_1416+27del