Canonical Allele Identifier: CA2576635294
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12665563_12665568del , CM000681.2:g.12665563_12665568del GRCh38
NC_000019.9:g.12776377_12776382del , CM000681.1:g.12776377_12776382del GRCh37
NC_000019.8:g.12637377_12637382del NCBI36
NG_008318.1:g.6212_6217del
NG_015814.1:g.3760_3765del

Transcript Alleles

HGVS Amino-acid change
ENST00000456935.7:c.263-41_263-36del MANE Select ENSP00000395473.2:n.263-41_263-36del
ENST00000221363.8:c.263-41_263-36del ENSP00000221363.4:n.263-41_263-36del
ENST00000456935.6:c.263-41_263-36del ENSP00000395473.2:n.263-41_263-36del
ENST00000466794.5:n.245-41_245-36del
ENST00000486847.2:c.160-41_160-36del ENSP00000470174.1:n.160-41_160-36del
ENST00000596512.5:n.201-41_201-36del
ENST00000597961.1:c.254-41_254-36del ENSP00000472710.1:n.254-41_254-36del
ENST00000598876.1:c.290-41_290-36del ENSP00000470533.1:n.290-41_290-36del
ENST00000600281.1:n.304-41_304-36del
NM_000528.3:c.263-41_263-36del NP_000519.2:n.263-41_263-36del
NM_001173498.1:c.263-41_263-36del NP_001166969.1:n.263-41_263-36del
XM_005259913.1:c.263-41_263-36del XP_005259970.1:n.263-41_263-36del
XM_005259913.2:c.263-41_263-36del XP_005259970.1:n.263-41_263-36del
XM_024451518.1:c.-756-41_-756-36del XP_024307286.1:n.-756-41_-756-36del
NM_000528.4:c.263-41_263-36del MANE Select NP_000519.2:n.263-41_263-36del
NM_001173498.2:c.263-41_263-36del NP_001166969.1:n.263-41_263-36del