Canonical Allele Identifier: CA2813645784

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658140del , CM000681.2:g.12658140del	GRCh38
NC_000019.9:g.12768954del , CM000681.1:g.12768954del	GRCh37
NC_000019.8:g.12629954del	NCBI36
NG_008318.1:g.13638del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1232del MANE Select	ENSP00000395473.2:p.Val411GlyfsTer?
ENST00000221363.8:c.1229del	ENSP00000221363.4:p.Val410GlyfsTer?
ENST00000456935.6:c.1232del	ENSP00000395473.2:p.Val411GlyfsTer?
ENST00000465830.1:n.396del
ENST00000466794.5:n.1131del
ENST00000495617.1:n.281-380del
NM_000528.3:c.1232del	NP_000519.2:p.Val411GlyfsTer?
NM_001173498.1:c.1229del	NP_001166969.1:p.Val410GlyfsTer?
XM_005259913.1:c.1235del	XP_005259970.1:p.Val412GlyfsTer?
XM_011528017.1:c.131del	XP_011526319.1:p.Val44GlyfsTer?
XM_005259913.2:c.1235del	XP_005259970.1:p.Val412GlyfsTer?
XM_024451518.1:c.131del	XP_024307286.1:p.Val44GlyfsTer?
NM_000528.4:c.1232del MANE Select	NP_000519.2:p.Val411GlyfsTer?
NM_001173498.2:c.1229del	NP_001166969.1:p.Val410GlyfsTer?