Canonical Allele Identifier: CA2323503645

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657276_12657279delinsCGTT , CM000681.2:g.12657276_12657279delinsCGTT	GRCh38
NC_000019.9:g.12768090_12768093delinsCGTT , CM000681.1:g.12768090_12768093delinsCGTT	GRCh37
NC_000019.8:g.12629090_12629093delinsCGTT	NCBI36
NG_008318.1:g.14499_14502delinsAACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1419+167_1419+170delinsAACG MANE Select	ENSP00000395473.2:n.1419+167_1419+170delinsAACG
ENST00000221363.8:c.1416+167_1416+170delinsAACG	ENSP00000221363.4:n.1416+167_1416+170delinsAACG
ENST00000456935.6:c.1419+167_1419+170delinsAACG	ENSP00000395473.2:n.1419+167_1419+170delinsAACG
ENST00000466794.5:n.1318+167_1318+170delinsAACG
ENST00000495617.1:n.595+167_595+170delinsAACG
ENST00000593686.1:c.29+167_29+170delinsAACG
ENST00000595880.5:n.16+85_16+88delinsAACG
NM_000528.3:c.1419+167_1419+170delinsAACG	NP_000519.2:n.1419+167_1419+170delinsAACG
NM_001173498.1:c.1416+167_1416+170delinsAACG	NP_001166969.1:n.1416+167_1416+170delinsAACG
XM_005259913.1:c.1422+167_1422+170delinsAACG	XP_005259970.1:n.1422+167_1422+170delinsAACG
XM_011528017.1:c.318+167_318+170delinsAACG	XP_011526319.1:n.318+167_318+170delinsAACG
XM_005259913.2:c.1422+167_1422+170delinsAACG	XP_005259970.1:n.1422+167_1422+170delinsAACG
XM_024451518.1:c.318+167_318+170delinsAACG	XP_024307286.1:n.318+167_318+170delinsAACG
NM_000528.4:c.1419+167_1419+170delinsAACG MANE Select	NP_000519.2:n.1419+167_1419+170delinsAACG
NM_001173498.2:c.1416+167_1416+170delinsAACG	NP_001166969.1:n.1416+167_1416+170delinsAACG