Canonical Allele Identifier: CA2323499636

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649327_12649328delinsTG , CM000681.2:g.12649327_12649328delinsTG	GRCh38
NC_000019.9:g.12760141_12760142delinsTG , CM000681.1:g.12760141_12760142delinsTG	GRCh37
NC_000019.8:g.12621141_12621142delinsTG	NCBI36
NG_008318.1:g.22450_22451delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2355+13_2355+14delinsCA MANE Select	ENSP00000395473.2:n.2355+13_2355+14delinsCA
ENST00000221363.8:c.2352+13_2352+14delinsCA	ENSP00000221363.4:n.2352+13_2352+14delinsCA
ENST00000456935.6:c.2355+13_2355+14delinsCA	ENSP00000395473.2:n.2355+13_2355+14delinsCA
ENST00000466794.5:n.2945+13_2945+14delinsCA
NM_000528.3:c.2355+13_2355+14delinsCA	NP_000519.2:n.2355+13_2355+14delinsCA
NM_001173498.1:c.2352+13_2352+14delinsCA	NP_001166969.1:n.2352+13_2352+14delinsCA
XM_005259913.1:c.2358+13_2358+14delinsCA	XP_005259970.1:n.2358+13_2358+14delinsCA
XM_011528017.1:c.1254+13_1254+14delinsCA	XP_011526319.1:n.1254+13_1254+14delinsCA
XM_005259913.2:c.2358+13_2358+14delinsCA	XP_005259970.1:n.2358+13_2358+14delinsCA
XM_024451518.1:c.1254+13_1254+14delinsCA	XP_024307286.1:n.1254+13_1254+14delinsCA
NM_000528.4:c.2355+13_2355+14delinsCA MANE Select	NP_000519.2:n.2355+13_2355+14delinsCA
NM_001173498.2:c.2352+13_2352+14delinsCA	NP_001166969.1:n.2352+13_2352+14delinsCA