Canonical Allele Identifier: CA2323500078
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12650102_12650117delinsACCCCACAGGTATCGG , CM000681.2:g.12650102_12650117delinsACCCCACAGGTATCGG GRCh38
NC_000019.9:g.12760916_12760931delinsACCCCACAGGTATCGG , CM000681.1:g.12760916_12760931delinsACCCCACAGGTATCGG GRCh37
NC_000019.8:g.12621916_12621931delinsACCCCACAGGTATCGG NCBI36
NG_008318.1:g.21661_21676delinsCCGATACCTGTGGGGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.2152_2165+2delinsCCGATACCTGTGGGGT
ENST00000221363.8:c.2149_2162+2delinsCCGATACCTGTGGGGT
ENST00000456935.6:c.2152_2165+2delinsCCGATACCTGTGGGGT
ENST00000466794.5:n.2742_2755+2delinsCCGATACCTGTGGGGT
NM_000528.3:c.2152_2165+2delinsCCGATACCTGTGGGGT
NM_001173498.1:c.2149_2162+2delinsCCGATACCTGTGGGGT
XM_005259913.1:c.2155_2168+2delinsCCGATACCTGTGGGGT
XM_011528017.1:c.1051_1064+2delinsCCGATACCTGTGGGGT
XM_005259913.2:c.2155_2168+2delinsCCGATACCTGTGGGGT
XM_024451518.1:c.1051_1064+2delinsCCGATACCTGTGGGGT
NM_000528.4:c.2152_2165+2delinsCCGATACCTGTGGGGT
NM_001173498.2:c.2149_2162+2delinsCCGATACCTGTGGGGT