Canonical Allele Identifier: CA2323498975

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647985_12647987delinsTAC , CM000681.2:g.12647985_12647987delinsTAC	GRCh38
NC_000019.9:g.12758799_12758801delinsTAC , CM000681.1:g.12758799_12758801delinsTAC	GRCh37
NC_000019.8:g.12619799_12619801delinsTAC	NCBI36
NG_008318.1:g.23791_23793delinsGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2664+188_2664+190delinsGTA MANE Select	ENSP00000395473.2:n.2664+188_2664+190delinsGTA
ENST00000221363.8:c.2661+188_2661+190delinsGTA	ENSP00000221363.4:n.2661+188_2661+190delinsGTA
ENST00000456935.6:c.2664+188_2664+190delinsGTA	ENSP00000395473.2:n.2664+188_2664+190delinsGTA
ENST00000466794.5:n.3254+188_3254+190delinsGTA
ENST00000597692.1:c.223+188_223+190delinsGTA
NM_000528.3:c.2664+188_2664+190delinsGTA	NP_000519.2:n.2664+188_2664+190delinsGTA
NM_001173498.1:c.2661+188_2661+190delinsGTA	NP_001166969.1:n.2661+188_2661+190delinsGTA
XM_005259913.1:c.2667+188_2667+190delinsGTA	XP_005259970.1:n.2667+188_2667+190delinsGTA
XM_011528017.1:c.1563+188_1563+190delinsGTA	XP_011526319.1:n.1563+188_1563+190delinsGTA
XM_005259913.2:c.2667+188_2667+190delinsGTA	XP_005259970.1:n.2667+188_2667+190delinsGTA
XM_024451518.1:c.1563+188_1563+190delinsGTA	XP_024307286.1:n.1563+188_1563+190delinsGTA
NM_000528.4:c.2664+188_2664+190delinsGTA MANE Select	NP_000519.2:n.2664+188_2664+190delinsGTA
NM_001173498.2:c.2661+188_2661+190delinsGTA	NP_001166969.1:n.2661+188_2661+190delinsGTA