Canonical Allele Identifier: CA2323504171

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658039_12658040delinsTC , CM000681.2:g.12658039_12658040delinsTC	GRCh38
NC_000019.9:g.12768853_12768854delinsTC , CM000681.1:g.12768853_12768854delinsTC	GRCh37
NC_000019.8:g.12629853_12629854delinsTC	NCBI36
NG_008318.1:g.13738_13739delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1309+23_1309+24delinsGA MANE Select	ENSP00000395473.2:n.1309+23_1309+24delinsGA
ENST00000221363.8:c.1306+23_1306+24delinsGA	ENSP00000221363.4:n.1306+23_1306+24delinsGA
ENST00000456935.6:c.1309+23_1309+24delinsGA	ENSP00000395473.2:n.1309+23_1309+24delinsGA
ENST00000465830.1:n.473+23_473+24delinsGA
ENST00000466794.5:n.1208+23_1208+24delinsGA
ENST00000495617.1:n.281-280_281-279delinsGA
NM_000528.3:c.1309+23_1309+24delinsGA	NP_000519.2:n.1309+23_1309+24delinsGA
NM_001173498.1:c.1306+23_1306+24delinsGA	NP_001166969.1:n.1306+23_1306+24delinsGA
XM_005259913.1:c.1312+23_1312+24delinsGA	XP_005259970.1:n.1312+23_1312+24delinsGA
XM_011528017.1:c.208+23_208+24delinsGA	XP_011526319.1:n.208+23_208+24delinsGA
XM_005259913.2:c.1312+23_1312+24delinsGA	XP_005259970.1:n.1312+23_1312+24delinsGA
XM_024451518.1:c.208+23_208+24delinsGA	XP_024307286.1:n.208+23_208+24delinsGA
NM_000528.4:c.1309+23_1309+24delinsGA MANE Select	NP_000519.2:n.1309+23_1309+24delinsGA
NM_001173498.2:c.1306+23_1306+24delinsGA	NP_001166969.1:n.1306+23_1306+24delinsGA