Canonical Allele Identifier: CA2323498675

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647517_12647518delinsGC , CM000681.2:g.12647517_12647518delinsGC	GRCh38
NC_000019.9:g.12758331_12758332delinsGC , CM000681.1:g.12758331_12758332delinsGC	GRCh37
NC_000019.8:g.12619331_12619332delinsGC	NCBI36
NG_008318.1:g.24260_24261delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2745_2746delinsGC MANE Select	ENSP00000395473.2:p.Leu915=
ENST00000221363.8:c.2742_2743delinsGC	ENSP00000221363.4:p.Leu914=
ENST00000456935.6:c.2745_2746delinsGC	ENSP00000395473.2:p.Leu915=
ENST00000466794.5:n.3335_3336delinsGC
ENST00000469423.1:n.67_68delinsGC
ENST00000493218.5:n.156_157delinsGC
ENST00000597692.1:c.304_305delinsGC
NM_000528.3:c.2745_2746delinsGC	NP_000519.2:p.Leu915=
NM_001173498.1:c.2742_2743delinsGC	NP_001166969.1:p.Leu914=
XM_005259913.1:c.2748_2749delinsGC	XP_005259970.1:p.Leu916=
XM_011528017.1:c.1644_1645delinsGC	XP_011526319.1:p.Leu548=
XM_005259913.2:c.2748_2749delinsGC	XP_005259970.1:p.Leu916=
XM_024451518.1:c.1644_1645delinsGC	XP_024307286.1:p.Leu548=
NM_000528.4:c.2745_2746delinsGC MANE Select	NP_000519.2:p.Leu915=
NM_001173498.2:c.2742_2743delinsGC	NP_001166969.1:p.Leu914=