Canonical Allele Identifier: CA2695228143

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665465_12665466insT , CM000681.2:g.12665465_12665466insT	GRCh38
NC_000019.9:g.12776279_12776280insT , CM000681.1:g.12776279_12776280insT	GRCh37
NC_000019.8:g.12637279_12637280insT	NCBI36
NG_008318.1:g.6312_6313insA
NG_015814.1:g.3662_3663insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.322_323insA MANE Select	ENSP00000395473.2:p.Leu108TyrfsTer?
ENST00000221363.8:c.322_323insA	ENSP00000221363.4:p.Leu108TyrfsTer?
ENST00000456935.6:c.322_323insA	ENSP00000395473.2:p.Leu108TyrfsTer?
ENST00000466794.5:n.304_305insA
ENST00000486847.2:c.219_220insA	ENSP00000470174.1:p.Cys74MetfsTer?
ENST00000596512.5:n.260_261insA
ENST00000597961.1:c.313_314insA	ENSP00000472710.1:p.Leu105TyrfsTer?
ENST00000598876.1:c.349_350insA	ENSP00000470533.1:p.Leu117TyrfsTer?
ENST00000600281.1:n.363_364insA
NM_000528.3:c.322_323insA	NP_000519.2:p.Leu108TyrfsTer?
NM_001173498.1:c.322_323insA	NP_001166969.1:p.Leu108TyrfsTer?
XM_005259913.1:c.322_323insA	XP_005259970.1:p.Leu108TyrfsTer?
XM_005259913.2:c.322_323insA	XP_005259970.1:p.Leu108TyrfsTer?
XM_024451518.1:c.-697_-696insA	XP_024307286.1:n.-697_-696insA
NM_000528.4:c.322_323insA MANE Select	NP_000519.2:p.Leu108TyrfsTer?
NM_001173498.2:c.322_323insA	NP_001166969.1:p.Leu108TyrfsTer?