Canonical Allele Identifier: CA2323507662
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12665332_12665333delinsCT , CM000681.2:g.12665332_12665333delinsCT GRCh38
NC_000019.9:g.12776146_12776147delinsCT , CM000681.1:g.12776146_12776147delinsCT GRCh37
NC_000019.8:g.12637146_12637147delinsCT NCBI36
NG_008318.1:g.6445_6446delinsAG
NG_015814.1:g.3529_3530delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.436+19_436+20delinsAG MANE Select ENSP00000395473.2:n.436+19_436+20delinsAG
ENST00000221363.8:c.436+19_436+20delinsAG ENSP00000221363.4:n.436+19_436+20delinsAG
ENST00000456935.6:c.436+19_436+20delinsAG ENSP00000395473.2:n.436+19_436+20delinsAG
ENST00000466794.5:n.418+19_418+20delinsAG
ENST00000486847.2:c.333+19_333+20delinsAG ENSP00000470174.1:n.333+19_333+20delinsAG
ENST00000596512.5:n.374+19_374+20delinsAG
ENST00000597961.1:c.427+19_427+20delinsAG ENSP00000472710.1:n.427+19_427+20delinsAG
ENST00000598876.1:c.463+19_463+20delinsAG ENSP00000470533.1:n.463+19_463+20delinsAG
ENST00000600281.1:n.496_497delinsAG
NM_000528.3:c.436+19_436+20delinsAG NP_000519.2:n.436+19_436+20delinsAG
NM_001173498.1:c.436+19_436+20delinsAG NP_001166969.1:n.436+19_436+20delinsAG
XM_005259913.1:c.436+19_436+20delinsAG XP_005259970.1:n.436+19_436+20delinsAG
XM_005259913.2:c.436+19_436+20delinsAG XP_005259970.1:n.436+19_436+20delinsAG
XM_024451518.1:c.-583+19_-583+20delinsAG XP_024307286.1:n.-583+19_-583+20delinsAG
NM_000528.4:c.436+19_436+20delinsAG MANE Select NP_000519.2:n.436+19_436+20delinsAG
NM_001173498.2:c.436+19_436+20delinsAG NP_001166969.1:n.436+19_436+20delinsAG