Canonical Allele Identifier: CA2323503452
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12656956_12656960delinsGCCGT , CM000681.2:g.12656956_12656960delinsGCCGT GRCh38
NC_000019.9:g.12767770_12767774delinsGCCGT , CM000681.1:g.12767770_12767774delinsGCCGT GRCh37
NC_000019.8:g.12628770_12628774delinsGCCGT NCBI36
NG_008318.1:g.14818_14822delinsACGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.1516_1520delinsACGGC MANE Select ENSP00000395473.2:p.Thr506=
ENST00000221363.8:c.1513_1517delinsACGGC ENSP00000221363.4:p.Thr505=
ENST00000433513.5:n.122_126delinsACGGC
ENST00000456935.6:c.1516_1520delinsACGGC ENSP00000395473.2:p.Thr506=
ENST00000466794.5:n.1415_1419delinsACGGC
ENST00000495617.1:n.692_696delinsACGGC
ENST00000593686.1:c.126_130delinsACGGC
ENST00000595880.5:n.113_117delinsACGGC
NM_000528.3:c.1516_1520delinsACGGC NP_000519.2:p.Thr506=
NM_001173498.1:c.1513_1517delinsACGGC NP_001166969.1:p.Thr505=
XM_005259913.1:c.1519_1523delinsACGGC XP_005259970.1:p.Thr507=
XM_011528017.1:c.415_419delinsACGGC XP_011526319.1:p.Thr139=
XM_005259913.2:c.1519_1523delinsACGGC XP_005259970.1:p.Thr507=
XM_024451518.1:c.415_419delinsACGGC XP_024307286.1:p.Thr139=
NM_000528.4:c.1516_1520delinsACGGC MANE Select NP_000519.2:p.Thr506=
NM_001173498.2:c.1513_1517delinsACGGC NP_001166969.1:p.Thr505=