Canonical Allele Identifier: CA2323507729

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665479_12665480delinsCG , CM000681.2:g.12665479_12665480delinsCG	GRCh38
NC_000019.9:g.12776293_12776294delinsCG , CM000681.1:g.12776293_12776294delinsCG	GRCh37
NC_000019.8:g.12637293_12637294delinsCG	NCBI36
NG_008318.1:g.6298_6299delinsCG
NG_015814.1:g.3676_3677delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.308_309delinsCG MANE Select	ENSP00000395473.2:p.Ser103=
ENST00000221363.8:c.308_309delinsCG	ENSP00000221363.4:p.Ser103=
ENST00000456935.6:c.308_309delinsCG	ENSP00000395473.2:p.Ser103=
ENST00000466794.5:n.290_291delinsCG
ENST00000486847.2:c.205_206delinsCG	ENSP00000470174.1:p.Arg69=
ENST00000596512.5:n.246_247delinsCG
ENST00000597961.1:c.299_300delinsCG	ENSP00000472710.1:p.Ser100=
ENST00000598876.1:c.335_336delinsCG	ENSP00000470533.1:p.Ser112=
ENST00000600281.1:n.349_350delinsCG
NM_000528.3:c.308_309delinsCG	NP_000519.2:p.Ser103=
NM_001173498.1:c.308_309delinsCG	NP_001166969.1:p.Ser103=
XM_005259913.1:c.308_309delinsCG	XP_005259970.1:p.Ser103=
XM_005259913.2:c.308_309delinsCG	XP_005259970.1:p.Ser103=
XM_024451518.1:c.-711_-710delinsCG	XP_024307286.1:n.-711_-710delinsCG
NM_000528.4:c.308_309delinsCG MANE Select	NP_000519.2:p.Ser103=
NM_001173498.2:c.308_309delinsCG	NP_001166969.1:p.Ser103=