Canonical Allele Identifier: CA2323507718

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665453_12665455delinsGGA , CM000681.2:g.12665453_12665455delinsGGA	GRCh38
NC_000019.9:g.12776267_12776269delinsGGA , CM000681.1:g.12776267_12776269delinsGGA	GRCh37
NC_000019.8:g.12637267_12637269delinsGGA	NCBI36
NG_008318.1:g.6323_6325delinsTCC
NG_015814.1:g.3650_3652delinsGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.333_335delinsTCC MANE Select	ENSP00000395473.2:p.Asp111=
ENST00000221363.8:c.333_335delinsTCC	ENSP00000221363.4:p.Asp111=
ENST00000456935.6:c.333_335delinsTCC	ENSP00000395473.2:p.Asp111=
ENST00000466794.5:n.315_317delinsTCC
ENST00000486847.2:c.230_232delinsTCC	ENSP00000470174.1:p.Ile77=
ENST00000596512.5:n.271_273delinsTCC
ENST00000597961.1:c.324_326delinsTCC	ENSP00000472710.1:p.Asp108=
ENST00000598876.1:c.360_362delinsTCC	ENSP00000470533.1:p.Asp120=
ENST00000600281.1:n.374_376delinsTCC
NM_000528.3:c.333_335delinsTCC	NP_000519.2:p.Asp111=
NM_001173498.1:c.333_335delinsTCC	NP_001166969.1:p.Asp111=
XM_005259913.1:c.333_335delinsTCC	XP_005259970.1:p.Asp111=
XM_005259913.2:c.333_335delinsTCC	XP_005259970.1:p.Asp111=
XM_024451518.1:c.-686_-684delinsTCC	XP_024307286.1:n.-686_-684delinsTCC
NM_000528.4:c.333_335delinsTCC MANE Select	NP_000519.2:p.Asp111=
NM_001173498.2:c.333_335delinsTCC	NP_001166969.1:p.Asp111=