Canonical Allele Identifier: CA2323498771

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647646_12647649delinsTGGA , CM000681.2:g.12647646_12647649delinsTGGA	GRCh38
NC_000019.9:g.12758460_12758463delinsTGGA , CM000681.1:g.12758460_12758463delinsTGGA	GRCh37
NC_000019.8:g.12619460_12619463delinsTGGA	NCBI36
NG_008318.1:g.24129_24132delinsTCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2665-51_2665-48delinsTCCA MANE Select	ENSP00000395473.2:n.2665-51_2665-48delinsTCCA
ENST00000221363.8:c.2662-51_2662-48delinsTCCA	ENSP00000221363.4:n.2662-51_2662-48delinsTCCA
ENST00000456935.6:c.2665-51_2665-48delinsTCCA	ENSP00000395473.2:n.2665-51_2665-48delinsTCCA
ENST00000466794.5:n.3255-51_3255-48delinsTCCA
ENST00000493218.5:n.25_28delinsTCCA
ENST00000597692.1:c.224-51_224-48delinsTCCA
NM_000528.3:c.2665-51_2665-48delinsTCCA	NP_000519.2:n.2665-51_2665-48delinsTCCA
NM_001173498.1:c.2662-51_2662-48delinsTCCA	NP_001166969.1:n.2662-51_2662-48delinsTCCA
XM_005259913.1:c.2668-51_2668-48delinsTCCA	XP_005259970.1:n.2668-51_2668-48delinsTCCA
XM_011528017.1:c.1564-51_1564-48delinsTCCA	XP_011526319.1:n.1564-51_1564-48delinsTCCA
XM_005259913.2:c.2668-51_2668-48delinsTCCA	XP_005259970.1:n.2668-51_2668-48delinsTCCA
XM_024451518.1:c.1564-51_1564-48delinsTCCA	XP_024307286.1:n.1564-51_1564-48delinsTCCA
NM_000528.4:c.2665-51_2665-48delinsTCCA MANE Select	NP_000519.2:n.2665-51_2665-48delinsTCCA
NM_001173498.2:c.2662-51_2662-48delinsTCCA	NP_001166969.1:n.2662-51_2662-48delinsTCCA