Canonical Allele Identifier: CA2323504411
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12658515_12658516delinsTG , CM000681.2:g.12658515_12658516delinsTG GRCh38
NC_000019.9:g.12769329_12769330delinsTG , CM000681.1:g.12769329_12769330delinsTG GRCh37
NC_000019.8:g.12630329_12630330delinsTG NCBI36
NG_008318.1:g.13262_13263delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.1027-6_1027-5delinsCA MANE Select ENSP00000395473.2:n.1027-6_1027-5delinsCA
ENST00000221363.8:c.1027-9_1027-8delinsCA ENSP00000221363.4:n.1027-9_1027-8delinsCA
ENST00000456935.6:c.1027-6_1027-5delinsCA ENSP00000395473.2:n.1027-6_1027-5delinsCA
ENST00000465830.1:n.102_103delinsCA
ENST00000466794.5:n.1009-172_1009-171delinsCA
ENST00000495617.1:n.280+215_280+216delinsCA
NM_000528.3:c.1027-6_1027-5delinsCA NP_000519.2:n.1027-6_1027-5delinsCA
NM_001173498.1:c.1027-9_1027-8delinsCA NP_001166969.1:n.1027-9_1027-8delinsCA
XM_005259913.1:c.1027-3_1027-2delinsCA XP_005259970.1:n.1027-3_1027-2delinsCA
XM_011528017.1:c.9-172_9-171delinsCA XP_011526319.1:n.9-172_9-171delinsCA
XM_005259913.2:c.1027-3_1027-2delinsCA XP_005259970.1:n.1027-3_1027-2delinsCA
XM_024451518.1:c.9-172_9-171delinsCA XP_024307286.1:n.9-172_9-171delinsCA
NM_000528.4:c.1027-6_1027-5delinsCA MANE Select NP_000519.2:n.1027-6_1027-5delinsCA
NM_001173498.2:c.1027-9_1027-8delinsCA NP_001166969.1:n.1027-9_1027-8delinsCA