Canonical Allele Identifier: CA2323507673

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665361_12665362delinsCA , CM000681.2:g.12665361_12665362delinsCA	GRCh38
NC_000019.9:g.12776175_12776176delinsCA , CM000681.1:g.12776175_12776176delinsCA	GRCh37
NC_000019.8:g.12637175_12637176delinsCA	NCBI36
NG_008318.1:g.6416_6417delinsTG
NG_015814.1:g.3558_3559delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.426_427delinsTG MANE Select	ENSP00000395473.2:p.Leu142=
ENST00000221363.8:c.426_427delinsTG	ENSP00000221363.4:p.Leu142=
ENST00000456935.6:c.426_427delinsTG	ENSP00000395473.2:p.Leu142=
ENST00000466794.5:n.408_409delinsTG
ENST00000486847.2:c.323_324delinsTG	ENSP00000470174.1:p.Leu108=
ENST00000596512.5:n.364_365delinsTG
ENST00000597961.1:c.417_418delinsTG	ENSP00000472710.1:p.Leu139=
ENST00000598876.1:c.453_454delinsTG	ENSP00000470533.1:p.Leu151=
ENST00000600281.1:n.467_468delinsTG
NM_000528.3:c.426_427delinsTG	NP_000519.2:p.Leu142=
NM_001173498.1:c.426_427delinsTG	NP_001166969.1:p.Leu142=
XM_005259913.1:c.426_427delinsTG	XP_005259970.1:p.Leu142=
XM_005259913.2:c.426_427delinsTG	XP_005259970.1:p.Leu142=
XM_024451518.1:c.-593_-592delinsTG	XP_024307286.1:n.-593_-592delinsTG
NM_000528.4:c.426_427delinsTG MANE Select	NP_000519.2:p.Leu142=
NM_001173498.2:c.426_427delinsTG	NP_001166969.1:p.Leu142=