Canonical Allele Identifier: CA2323504095

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657954_12657973delinsCAAAAAAAAAAAAAAAAAAA , CM000681.2:g.12657954_12657973delinsCAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000019.9:g.12768768_12768787delinsCAAAAAAAAAAAAAAAAAAA , CM000681.1:g.12768768_12768787delinsCAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000019.8:g.12629768_12629787delinsCAAAAAAAAAAAAAAAAAAA	NCBI36
NG_008318.1:g.13805_13824delinsTTTTTTTTTTTTTTTTTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1309+90_1309+109delinsTTTTTTTTTTTTTTTTTTTG MANE Select	ENSP00000395473.2:n.1309+90_1309+109delinsTTTTTTTTTTTTTTTTTTT...
ENST00000221363.8:c.1306+90_1306+109delinsTTTTTTTTTTTTTTTTTTTG	ENSP00000221363.4:n.1306+90_1306+109delinsTTTTTTTTTTTTTTTTTTT...
ENST00000456935.6:c.1309+90_1309+109delinsTTTTTTTTTTTTTTTTTTTG	ENSP00000395473.2:n.1309+90_1309+109delinsTTTTTTTTTTTTTTTTTTT...
ENST00000465830.1:n.473+90_473+109delinsTTTTTTTTTTTTTTTTTTTG
ENST00000466794.5:n.1208+90_1208+109delinsTTTTTTTTTTTTTTTTTTTG
ENST00000495617.1:n.281-213_281-194delinsTTTTTTTTTTTTTTTTTTTG
NM_000528.3:c.1309+90_1309+109delinsTTTTTTTTTTTTTTTTTTTG	NP_000519.2:n.1309+90_1309+109delinsTTTTTTTTTTTTTTTTTTTG
NM_001173498.1:c.1306+90_1306+109delinsTTTTTTTTTTTTTTTTTTTG	NP_001166969.1:n.1306+90_1306+109delinsTTTTTTTTTTTTTTTTTTTG
XM_005259913.1:c.1312+90_1312+109delinsTTTTTTTTTTTTTTTTTTTG	XP_005259970.1:n.1312+90_1312+109delinsTTTTTTTTTTTTTTTTTTTG
XM_011528017.1:c.208+90_208+109delinsTTTTTTTTTTTTTTTTTTTG	XP_011526319.1:n.208+90_208+109delinsTTTTTTTTTTTTTTTTTTTG
XM_005259913.2:c.1312+90_1312+109delinsTTTTTTTTTTTTTTTTTTTG	XP_005259970.1:n.1312+90_1312+109delinsTTTTTTTTTTTTTTTTTTTG
XM_024451518.1:c.208+90_208+109delinsTTTTTTTTTTTTTTTTTTTG	XP_024307286.1:n.208+90_208+109delinsTTTTTTTTTTTTTTTTTTTG
NM_000528.4:c.1309+90_1309+109delinsTTTTTTTTTTTTTTTTTTTG MANE Select	NP_000519.2:n.1309+90_1309+109delinsTTTTTTTTTTTTTTTTTTTG
NM_001173498.2:c.1306+90_1306+109delinsTTTTTTTTTTTTTTTTTTTG	NP_001166969.1:n.1306+90_1306+109delinsTTTTTTTTTTTTTTTTTTTG