Canonical Allele Identifier: CA2323507626

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665250_12665251delinsGT , CM000681.2:g.12665250_12665251delinsGT	GRCh38
NC_000019.9:g.12776064_12776065delinsGT , CM000681.1:g.12776064_12776065delinsGT	GRCh37
NC_000019.8:g.12637064_12637065delinsGT	NCBI36
NG_008318.1:g.6527_6528delinsAC
NG_015814.1:g.3447_3448delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.436+101_436+102delinsAC MANE Select	ENSP00000395473.2:n.436+101_436+102delinsAC
ENST00000221363.8:c.436+101_436+102delinsAC	ENSP00000221363.4:n.436+101_436+102delinsAC
ENST00000456935.6:c.436+101_436+102delinsAC	ENSP00000395473.2:n.436+101_436+102delinsAC
ENST00000466794.5:n.418+101_418+102delinsAC
ENST00000486847.2:c.333+101_333+102delinsAC	ENSP00000470174.1:n.333+101_333+102delinsAC
ENST00000596512.5:n.374+101_374+102delinsAC
ENST00000597961.1:c.427+101_427+102delinsAC	ENSP00000472710.1:n.427+101_427+102delinsAC
ENST00000598876.1:c.463+101_463+102delinsAC	ENSP00000470533.1:n.463+101_463+102delinsAC
ENST00000600281.1:n.578_579delinsAC
NM_000528.3:c.436+101_436+102delinsAC	NP_000519.2:n.436+101_436+102delinsAC
NM_001173498.1:c.436+101_436+102delinsAC	NP_001166969.1:n.436+101_436+102delinsAC
XM_005259913.1:c.436+101_436+102delinsAC	XP_005259970.1:n.436+101_436+102delinsAC
XM_005259913.2:c.436+101_436+102delinsAC	XP_005259970.1:n.436+101_436+102delinsAC
XM_024451518.1:c.-583+101_-583+102delinsAC	XP_024307286.1:n.-583+101_-583+102delinsAC
NM_000528.4:c.436+101_436+102delinsAC MANE Select	NP_000519.2:n.436+101_436+102delinsAC
NM_001173498.2:c.436+101_436+102delinsAC	NP_001166969.1:n.436+101_436+102delinsAC