Canonical Allele Identifier: CA2323504223

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658151_12658152delinsGA , CM000681.2:g.12658151_12658152delinsGA	GRCh38
NC_000019.9:g.12768965_12768966delinsGA , CM000681.1:g.12768965_12768966delinsGA	GRCh37
NC_000019.8:g.12629965_12629966delinsGA	NCBI36
NG_008318.1:g.13626_13627delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1231-11_1231-10delinsTC MANE Select	ENSP00000395473.2:n.1231-11_1231-10delinsTC
ENST00000221363.8:c.1228-11_1228-10delinsTC	ENSP00000221363.4:n.1228-11_1228-10delinsTC
ENST00000456935.6:c.1231-11_1231-10delinsTC	ENSP00000395473.2:n.1231-11_1231-10delinsTC
ENST00000465830.1:n.395-11_395-10delinsTC
ENST00000466794.5:n.1130-11_1130-10delinsTC
ENST00000495617.1:n.281-392_281-391delinsTC
NM_000528.3:c.1231-11_1231-10delinsTC	NP_000519.2:n.1231-11_1231-10delinsTC
NM_001173498.1:c.1228-11_1228-10delinsTC	NP_001166969.1:n.1228-11_1228-10delinsTC
XM_005259913.1:c.1234-11_1234-10delinsTC	XP_005259970.1:n.1234-11_1234-10delinsTC
XM_011528017.1:c.130-11_130-10delinsTC	XP_011526319.1:n.130-11_130-10delinsTC
XM_005259913.2:c.1234-11_1234-10delinsTC	XP_005259970.1:n.1234-11_1234-10delinsTC
XM_024451518.1:c.130-11_130-10delinsTC	XP_024307286.1:n.130-11_130-10delinsTC
NM_000528.4:c.1231-11_1231-10delinsTC MANE Select	NP_000519.2:n.1231-11_1231-10delinsTC
NM_001173498.2:c.1228-11_1228-10delinsTC	NP_001166969.1:n.1228-11_1228-10delinsTC