Canonical Allele Identifier: CA2323498938

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647908_12647909delinsGA , CM000681.2:g.12647908_12647909delinsGA	GRCh38
NC_000019.9:g.12758722_12758723delinsGA , CM000681.1:g.12758722_12758723delinsGA	GRCh37
NC_000019.8:g.12619722_12619723delinsGA	NCBI36
NG_008318.1:g.23869_23870delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2664+266_2664+267delinsTC MANE Select	ENSP00000395473.2:n.2664+266_2664+267delinsTC
ENST00000221363.8:c.2661+266_2661+267delinsTC	ENSP00000221363.4:n.2661+266_2661+267delinsTC
ENST00000456935.6:c.2664+266_2664+267delinsTC	ENSP00000395473.2:n.2664+266_2664+267delinsTC
ENST00000466794.5:n.3254+266_3254+267delinsTC
ENST00000597692.1:c.223+266_223+267delinsTC
NM_000528.3:c.2664+266_2664+267delinsTC	NP_000519.2:n.2664+266_2664+267delinsTC
NM_001173498.1:c.2661+266_2661+267delinsTC	NP_001166969.1:n.2661+266_2661+267delinsTC
XM_005259913.1:c.2667+266_2667+267delinsTC	XP_005259970.1:n.2667+266_2667+267delinsTC
XM_011528017.1:c.1563+266_1563+267delinsTC	XP_011526319.1:n.1563+266_1563+267delinsTC
XM_005259913.2:c.2667+266_2667+267delinsTC	XP_005259970.1:n.2667+266_2667+267delinsTC
XM_024451518.1:c.1563+266_1563+267delinsTC	XP_024307286.1:n.1563+266_1563+267delinsTC
NM_000528.4:c.2664+266_2664+267delinsTC MANE Select	NP_000519.2:n.2664+266_2664+267delinsTC
NM_001173498.2:c.2661+266_2661+267delinsTC	NP_001166969.1:n.2661+266_2661+267delinsTC