Canonical Allele Identifier: CA2323507632

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665267_12665268delinsTG , CM000681.2:g.12665267_12665268delinsTG	GRCh38
NC_000019.9:g.12776081_12776082delinsTG , CM000681.1:g.12776081_12776082delinsTG	GRCh37
NC_000019.8:g.12637081_12637082delinsTG	NCBI36
NG_008318.1:g.6510_6511delinsCA
NG_015814.1:g.3464_3465delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.436+84_436+85delinsCA MANE Select	ENSP00000395473.2:n.436+84_436+85delinsCA
ENST00000221363.8:c.436+84_436+85delinsCA	ENSP00000221363.4:n.436+84_436+85delinsCA
ENST00000456935.6:c.436+84_436+85delinsCA	ENSP00000395473.2:n.436+84_436+85delinsCA
ENST00000466794.5:n.418+84_418+85delinsCA
ENST00000486847.2:c.333+84_333+85delinsCA	ENSP00000470174.1:n.333+84_333+85delinsCA
ENST00000596512.5:n.374+84_374+85delinsCA
ENST00000597961.1:c.427+84_427+85delinsCA	ENSP00000472710.1:n.427+84_427+85delinsCA
ENST00000598876.1:c.463+84_463+85delinsCA	ENSP00000470533.1:n.463+84_463+85delinsCA
ENST00000600281.1:n.561_562delinsCA
NM_000528.3:c.436+84_436+85delinsCA	NP_000519.2:n.436+84_436+85delinsCA
NM_001173498.1:c.436+84_436+85delinsCA	NP_001166969.1:n.436+84_436+85delinsCA
XM_005259913.1:c.436+84_436+85delinsCA	XP_005259970.1:n.436+84_436+85delinsCA
XM_005259913.2:c.436+84_436+85delinsCA	XP_005259970.1:n.436+84_436+85delinsCA
XM_024451518.1:c.-583+84_-583+85delinsCA	XP_024307286.1:n.-583+84_-583+85delinsCA
NM_000528.4:c.436+84_436+85delinsCA MANE Select	NP_000519.2:n.436+84_436+85delinsCA
NM_001173498.2:c.436+84_436+85delinsCA	NP_001166969.1:n.436+84_436+85delinsCA