Canonical Allele Identifier: CA2323504163

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658024_12658026delinsCAG , CM000681.2:g.12658024_12658026delinsCAG	GRCh38
NC_000019.9:g.12768838_12768840delinsCAG , CM000681.1:g.12768838_12768840delinsCAG	GRCh37
NC_000019.8:g.12629838_12629840delinsCAG	NCBI36
NG_008318.1:g.13752_13754delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1309+37_1309+39delinsCTG MANE Select	ENSP00000395473.2:n.1309+37_1309+39delinsCTG
ENST00000221363.8:c.1306+37_1306+39delinsCTG	ENSP00000221363.4:n.1306+37_1306+39delinsCTG
ENST00000456935.6:c.1309+37_1309+39delinsCTG	ENSP00000395473.2:n.1309+37_1309+39delinsCTG
ENST00000465830.1:n.473+37_473+39delinsCTG
ENST00000466794.5:n.1208+37_1208+39delinsCTG
ENST00000495617.1:n.281-266_281-264delinsCTG
NM_000528.3:c.1309+37_1309+39delinsCTG	NP_000519.2:n.1309+37_1309+39delinsCTG
NM_001173498.1:c.1306+37_1306+39delinsCTG	NP_001166969.1:n.1306+37_1306+39delinsCTG
XM_005259913.1:c.1312+37_1312+39delinsCTG	XP_005259970.1:n.1312+37_1312+39delinsCTG
XM_011528017.1:c.208+37_208+39delinsCTG	XP_011526319.1:n.208+37_208+39delinsCTG
XM_005259913.2:c.1312+37_1312+39delinsCTG	XP_005259970.1:n.1312+37_1312+39delinsCTG
XM_024451518.1:c.208+37_208+39delinsCTG	XP_024307286.1:n.208+37_208+39delinsCTG
NM_000528.4:c.1309+37_1309+39delinsCTG MANE Select	NP_000519.2:n.1309+37_1309+39delinsCTG
NM_001173498.2:c.1306+37_1306+39delinsCTG	NP_001166969.1:n.1306+37_1306+39delinsCTG