Canonical Allele Identifier: CA2323498742

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647620_12647622delinsTGA , CM000681.2:g.12647620_12647622delinsTGA	GRCh38
NC_000019.9:g.12758434_12758436delinsTGA , CM000681.1:g.12758434_12758436delinsTGA	GRCh37
NC_000019.8:g.12619434_12619436delinsTGA	NCBI36
NG_008318.1:g.24156_24158delinsTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2665-24_2665-22delinsTCA MANE Select	ENSP00000395473.2:n.2665-24_2665-22delinsTCA
ENST00000221363.8:c.2662-24_2662-22delinsTCA	ENSP00000221363.4:n.2662-24_2662-22delinsTCA
ENST00000456935.6:c.2665-24_2665-22delinsTCA	ENSP00000395473.2:n.2665-24_2665-22delinsTCA
ENST00000466794.5:n.3255-24_3255-22delinsTCA
ENST00000493218.5:n.52_54delinsTCA
ENST00000597692.1:c.224-24_224-22delinsTCA
NM_000528.3:c.2665-24_2665-22delinsTCA	NP_000519.2:n.2665-24_2665-22delinsTCA
NM_001173498.1:c.2662-24_2662-22delinsTCA	NP_001166969.1:n.2662-24_2662-22delinsTCA
XM_005259913.1:c.2668-24_2668-22delinsTCA	XP_005259970.1:n.2668-24_2668-22delinsTCA
XM_011528017.1:c.1564-24_1564-22delinsTCA	XP_011526319.1:n.1564-24_1564-22delinsTCA
XM_005259913.2:c.2668-24_2668-22delinsTCA	XP_005259970.1:n.2668-24_2668-22delinsTCA
XM_024451518.1:c.1564-24_1564-22delinsTCA	XP_024307286.1:n.1564-24_1564-22delinsTCA
NM_000528.4:c.2665-24_2665-22delinsTCA MANE Select	NP_000519.2:n.2665-24_2665-22delinsTCA
NM_001173498.2:c.2662-24_2662-22delinsTCA	NP_001166969.1:n.2662-24_2662-22delinsTCA