Canonical Allele Identifier: CA2323504119
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12657981_12657985delinsAGAAG , CM000681.2:g.12657981_12657985delinsAGAAG GRCh38
NC_000019.9:g.12768795_12768799delinsAGAAG , CM000681.1:g.12768795_12768799delinsAGAAG GRCh37
NC_000019.8:g.12629795_12629799delinsAGAAG NCBI36
NG_008318.1:g.13793_13797delinsCTTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.1309+78_1309+82delinsCTTCT MANE Select ENSP00000395473.2:n.1309+78_1309+82delinsCTTCT
ENST00000221363.8:c.1306+78_1306+82delinsCTTCT ENSP00000221363.4:n.1306+78_1306+82delinsCTTCT
ENST00000456935.6:c.1309+78_1309+82delinsCTTCT ENSP00000395473.2:n.1309+78_1309+82delinsCTTCT
ENST00000465830.1:n.473+78_473+82delinsCTTCT
ENST00000466794.5:n.1208+78_1208+82delinsCTTCT
ENST00000495617.1:n.281-225_281-221delinsCTTCT
NM_000528.3:c.1309+78_1309+82delinsCTTCT NP_000519.2:n.1309+78_1309+82delinsCTTCT
NM_001173498.1:c.1306+78_1306+82delinsCTTCT NP_001166969.1:n.1306+78_1306+82delinsCTTCT
XM_005259913.1:c.1312+78_1312+82delinsCTTCT XP_005259970.1:n.1312+78_1312+82delinsCTTCT
XM_011528017.1:c.208+78_208+82delinsCTTCT XP_011526319.1:n.208+78_208+82delinsCTTCT
XM_005259913.2:c.1312+78_1312+82delinsCTTCT XP_005259970.1:n.1312+78_1312+82delinsCTTCT
XM_024451518.1:c.208+78_208+82delinsCTTCT XP_024307286.1:n.208+78_208+82delinsCTTCT
NM_000528.4:c.1309+78_1309+82delinsCTTCT MANE Select NP_000519.2:n.1309+78_1309+82delinsCTTCT
NM_001173498.2:c.1306+78_1306+82delinsCTTCT NP_001166969.1:n.1306+78_1306+82delinsCTTCT