Canonical Allele Identifier: CA2323503623

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657252_12657254delinsCTT , CM000681.2:g.12657252_12657254delinsCTT	GRCh38
NC_000019.9:g.12768066_12768068delinsCTT , CM000681.1:g.12768066_12768068delinsCTT	GRCh37
NC_000019.8:g.12629066_12629068delinsCTT	NCBI36
NG_008318.1:g.14524_14526delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1419+192_1419+194delinsAAG MANE Select	ENSP00000395473.2:n.1419+192_1419+194delinsAAG
ENST00000221363.8:c.1416+192_1416+194delinsAAG	ENSP00000221363.4:n.1416+192_1416+194delinsAAG
ENST00000456935.6:c.1419+192_1419+194delinsAAG	ENSP00000395473.2:n.1419+192_1419+194delinsAAG
ENST00000466794.5:n.1318+192_1318+194delinsAAG
ENST00000495617.1:n.595+192_595+194delinsAAG
ENST00000593686.1:c.29+192_29+194delinsAAG
ENST00000595880.5:n.16+110_16+112delinsAAG
NM_000528.3:c.1419+192_1419+194delinsAAG	NP_000519.2:n.1419+192_1419+194delinsAAG
NM_001173498.1:c.1416+192_1416+194delinsAAG	NP_001166969.1:n.1416+192_1416+194delinsAAG
XM_005259913.1:c.1422+192_1422+194delinsAAG	XP_005259970.1:n.1422+192_1422+194delinsAAG
XM_011528017.1:c.318+192_318+194delinsAAG	XP_011526319.1:n.318+192_318+194delinsAAG
XM_005259913.2:c.1422+192_1422+194delinsAAG	XP_005259970.1:n.1422+192_1422+194delinsAAG
XM_024451518.1:c.318+192_318+194delinsAAG	XP_024307286.1:n.318+192_318+194delinsAAG
NM_000528.4:c.1419+192_1419+194delinsAAG MANE Select	NP_000519.2:n.1419+192_1419+194delinsAAG
NM_001173498.2:c.1416+192_1416+194delinsAAG	NP_001166969.1:n.1416+192_1416+194delinsAAG