Canonical Allele Identifier: CA2323503727

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657389_12657390delinsCT , CM000681.2:g.12657389_12657390delinsCT	GRCh38
NC_000019.9:g.12768203_12768204delinsCT , CM000681.1:g.12768203_12768204delinsCT	GRCh37
NC_000019.8:g.12629203_12629204delinsCT	NCBI36
NG_008318.1:g.14388_14389delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1419+56_1419+57delinsAG MANE Select	ENSP00000395473.2:n.1419+56_1419+57delinsAG
ENST00000221363.8:c.1416+56_1416+57delinsAG	ENSP00000221363.4:n.1416+56_1416+57delinsAG
ENST00000456935.6:c.1419+56_1419+57delinsAG	ENSP00000395473.2:n.1419+56_1419+57delinsAG
ENST00000466794.5:n.1318+56_1318+57delinsAG
ENST00000495617.1:n.595+56_595+57delinsAG
ENST00000593686.1:c.29+56_29+57delinsAG
NM_000528.3:c.1419+56_1419+57delinsAG	NP_000519.2:n.1419+56_1419+57delinsAG
NM_001173498.1:c.1416+56_1416+57delinsAG	NP_001166969.1:n.1416+56_1416+57delinsAG
XM_005259913.1:c.1422+56_1422+57delinsAG	XP_005259970.1:n.1422+56_1422+57delinsAG
XM_011528017.1:c.318+56_318+57delinsAG	XP_011526319.1:n.318+56_318+57delinsAG
XM_005259913.2:c.1422+56_1422+57delinsAG	XP_005259970.1:n.1422+56_1422+57delinsAG
XM_024451518.1:c.318+56_318+57delinsAG	XP_024307286.1:n.318+56_318+57delinsAG
NM_000528.4:c.1419+56_1419+57delinsAG MANE Select	NP_000519.2:n.1419+56_1419+57delinsAG
NM_001173498.2:c.1416+56_1416+57delinsAG	NP_001166969.1:n.1416+56_1416+57delinsAG