Canonical Allele Identifier: CA2323498959

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647949_12647952delinsTTGG , CM000681.2:g.12647949_12647952delinsTTGG	GRCh38
NC_000019.9:g.12758763_12758766delinsTTGG , CM000681.1:g.12758763_12758766delinsTTGG	GRCh37
NC_000019.8:g.12619763_12619766delinsTTGG	NCBI36
NG_008318.1:g.23826_23829delinsCCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2664+223_2664+226delinsCCAA MANE Select	ENSP00000395473.2:n.2664+223_2664+226delinsCCAA
ENST00000221363.8:c.2661+223_2661+226delinsCCAA	ENSP00000221363.4:n.2661+223_2661+226delinsCCAA
ENST00000456935.6:c.2664+223_2664+226delinsCCAA	ENSP00000395473.2:n.2664+223_2664+226delinsCCAA
ENST00000466794.5:n.3254+223_3254+226delinsCCAA
ENST00000597692.1:c.223+223_223+226delinsCCAA
NM_000528.3:c.2664+223_2664+226delinsCCAA	NP_000519.2:n.2664+223_2664+226delinsCCAA
NM_001173498.1:c.2661+223_2661+226delinsCCAA	NP_001166969.1:n.2661+223_2661+226delinsCCAA
XM_005259913.1:c.2667+223_2667+226delinsCCAA	XP_005259970.1:n.2667+223_2667+226delinsCCAA
XM_011528017.1:c.1563+223_1563+226delinsCCAA	XP_011526319.1:n.1563+223_1563+226delinsCCAA
XM_005259913.2:c.2667+223_2667+226delinsCCAA	XP_005259970.1:n.2667+223_2667+226delinsCCAA
XM_024451518.1:c.1563+223_1563+226delinsCCAA	XP_024307286.1:n.1563+223_1563+226delinsCCAA
NM_000528.4:c.2664+223_2664+226delinsCCAA MANE Select	NP_000519.2:n.2664+223_2664+226delinsCCAA
NM_001173498.2:c.2661+223_2661+226delinsCCAA	NP_001166969.1:n.2661+223_2661+226delinsCCAA