Canonical Allele Identifier: CA2323502819

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12655740_12655750delinsGGCTGTGGTGC , CM000681.2:g.12655740_12655750delinsGGCTGTGGTGC	GRCh38
NC_000019.9:g.12766554_12766564delinsGGCTGTGGTGC , CM000681.1:g.12766554_12766564delinsGGCTGTGGTGC	GRCh37
NC_000019.8:g.12627554_12627564delinsGGCTGTGGTGC	NCBI36
NG_008318.1:g.16028_16038delinsGCACCACAGCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.1774_1784delinsGCACCACAGCC MANE Select	ENSP00000395473.2:p.Ala592=
ENST00000221363.8:c.1771_1781delinsGCACCACAGCC	ENSP00000221363.4:p.Ala591=
ENST00000433513.5:n.380_390delinsGCACCACAGCC
ENST00000456935.6:c.1774_1784delinsGCACCACAGCC	ENSP00000395473.2:p.Ala592=
ENST00000466794.5:n.2364_2374delinsGCACCACAGCC
ENST00000593686.1:c.367_377delinsGCACCACAGCC
ENST00000595880.5:n.371_381delinsGCACCACAGCC
ENST00000596591.1:c.138_148delinsGCACCACAGCC
NM_000528.3:c.1774_1784delinsGCACCACAGCC	NP_000519.2:p.Ala592=
NM_001173498.1:c.1771_1781delinsGCACCACAGCC	NP_001166969.1:p.Ala591=
XM_005259913.1:c.1777_1787delinsGCACCACAGCC	XP_005259970.1:p.Ala593=
XM_011528017.1:c.673_683delinsGCACCACAGCC	XP_011526319.1:p.Ala225=
XM_005259913.2:c.1777_1787delinsGCACCACAGCC	XP_005259970.1:p.Ala593=
XM_024451518.1:c.673_683delinsGCACCACAGCC	XP_024307286.1:p.Ala225=
NM_000528.4:c.1774_1784delinsGCACCACAGCC MANE Select	NP_000519.2:p.Ala592=
NM_001173498.2:c.1771_1781delinsGCACCACAGCC	NP_001166969.1:p.Ala591=