Canonical Allele Identifier: CA2323503540

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657123_12657124delinsGC , CM000681.2:g.12657123_12657124delinsGC	GRCh38
NC_000019.9:g.12767937_12767938delinsGC , CM000681.1:g.12767937_12767938delinsGC	GRCh37
NC_000019.8:g.12628937_12628938delinsGC	NCBI36
NG_008318.1:g.14654_14655delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1420-68_1420-67delinsGC MANE Select	ENSP00000395473.2:n.1420-68_1420-67delinsGC
ENST00000221363.8:c.1417-68_1417-67delinsGC	ENSP00000221363.4:n.1417-68_1417-67delinsGC
ENST00000433513.5:n.26-68_26-67delinsGC
ENST00000456935.6:c.1420-68_1420-67delinsGC	ENSP00000395473.2:n.1420-68_1420-67delinsGC
ENST00000466794.5:n.1319-68_1319-67delinsGC
ENST00000495617.1:n.596-68_596-67delinsGC
ENST00000593686.1:c.30-68_30-67delinsGC
ENST00000595880.5:n.17-68_17-67delinsGC
NM_000528.3:c.1420-68_1420-67delinsGC	NP_000519.2:n.1420-68_1420-67delinsGC
NM_001173498.1:c.1417-68_1417-67delinsGC	NP_001166969.1:n.1417-68_1417-67delinsGC
XM_005259913.1:c.1423-68_1423-67delinsGC	XP_005259970.1:n.1423-68_1423-67delinsGC
XM_011528017.1:c.319-68_319-67delinsGC	XP_011526319.1:n.319-68_319-67delinsGC
XM_005259913.2:c.1423-68_1423-67delinsGC	XP_005259970.1:n.1423-68_1423-67delinsGC
XM_024451518.1:c.319-68_319-67delinsGC	XP_024307286.1:n.319-68_319-67delinsGC
NM_000528.4:c.1420-68_1420-67delinsGC MANE Select	NP_000519.2:n.1420-68_1420-67delinsGC
NM_001173498.2:c.1417-68_1417-67delinsGC	NP_001166969.1:n.1417-68_1417-67delinsGC