Canonical Allele Identifier: CA2813645375

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657266_12657267insCCCCCCCCCCC , CM000681.2:g.12657266_12657267insCCCCCCCCCCC	GRCh38
NC_000019.9:g.12768080_12768081insCCCCCCCCCCC , CM000681.1:g.12768080_12768081insCCCCCCCCCCC	GRCh37
NC_000019.8:g.12629080_12629081insCCCCCCCCCCC	NCBI36
NG_008318.1:g.14511_14512insGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1419+179_1419+180insGGGGGGGGGGG MANE Select	ENSP00000395473.2:n.1419+179_1419+180insGGGGGGGGGGG
ENST00000221363.8:c.1416+179_1416+180insGGGGGGGGGGG	ENSP00000221363.4:n.1416+179_1416+180insGGGGGGGGGGG
ENST00000456935.6:c.1419+179_1419+180insGGGGGGGGGGG	ENSP00000395473.2:n.1419+179_1419+180insGGGGGGGGGGG
ENST00000466794.5:n.1318+179_1318+180insGGGGGGGGGGG
ENST00000495617.1:n.595+179_595+180insGGGGGGGGGGG
ENST00000593686.1:c.29+179_29+180insGGGGGGGGGGG
ENST00000595880.5:n.16+97_16+98insGGGGGGGGGGG
NM_000528.3:c.1419+179_1419+180insGGGGGGGGGGG	NP_000519.2:n.1419+179_1419+180insGGGGGGGGGGG
NM_001173498.1:c.1416+179_1416+180insGGGGGGGGGGG	NP_001166969.1:n.1416+179_1416+180insGGGGGGGGGGG
XM_005259913.1:c.1422+179_1422+180insGGGGGGGGGGG	XP_005259970.1:n.1422+179_1422+180insGGGGGGGGGGG
XM_011528017.1:c.318+179_318+180insGGGGGGGGGGG	XP_011526319.1:n.318+179_318+180insGGGGGGGGGGG
XM_005259913.2:c.1422+179_1422+180insGGGGGGGGGGG	XP_005259970.1:n.1422+179_1422+180insGGGGGGGGGGG
XM_024451518.1:c.318+179_318+180insGGGGGGGGGGG	XP_024307286.1:n.318+179_318+180insGGGGGGGGGGG
NM_000528.4:c.1419+179_1419+180insGGGGGGGGGGG MANE Select	NP_000519.2:n.1419+179_1419+180insGGGGGGGGGGG
NM_001173498.2:c.1416+179_1416+180insGGGGGGGGGGG	NP_001166969.1:n.1416+179_1416+180insGGGGGGGGGGG