Canonical Allele Identifier: CA2695228122

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12656958del , CM000681.2:g.12656958del	GRCh38
NC_000019.9:g.12767772del , CM000681.1:g.12767772del	GRCh37
NC_000019.8:g.12628772del	NCBI36
NG_008318.1:g.14821del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1519del MANE Select	ENSP00000395473.2:p.Ala507ArgfsTer16
ENST00000221363.8:c.1516del	ENSP00000221363.4:p.Ala506ArgfsTer16
ENST00000433513.5:n.125del
ENST00000456935.6:c.1519del	ENSP00000395473.2:p.Ala507ArgfsTer16
ENST00000466794.5:n.1418del
ENST00000495617.1:n.695del
ENST00000593686.1:c.129del
ENST00000595880.5:n.116del
NM_000528.3:c.1519del	NP_000519.2:p.Ala507ArgfsTer16
NM_001173498.1:c.1516del	NP_001166969.1:p.Ala506ArgfsTer16
XM_005259913.1:c.1522del	XP_005259970.1:p.Ala508ArgfsTer16
XM_011528017.1:c.418del	XP_011526319.1:p.Ala140ArgfsTer16
XM_005259913.2:c.1522del	XP_005259970.1:p.Ala508ArgfsTer16
XM_024451518.1:c.418del	XP_024307286.1:p.Ala140ArgfsTer16
NM_000528.4:c.1519del MANE Select	NP_000519.2:p.Ala507ArgfsTer16
NM_001173498.2:c.1516del	NP_001166969.1:p.Ala506ArgfsTer16