Canonical Allele Identifier: CA2582720319

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12657166-GCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657169_12657170del , CM000681.2:g.12657169_12657170del	GRCh38
NC_000019.9:g.12767983_12767984del , CM000681.1:g.12767983_12767984del	GRCh37
NC_000019.8:g.12628983_12628984del	NCBI36
NG_008318.1:g.14610_14611del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1420-112_1420-111del MANE Select	ENSP00000395473.2:n.1420-112_1420-111del
ENST00000221363.8:c.1417-112_1417-111del	ENSP00000221363.4:n.1417-112_1417-111del
ENST00000433513.5:n.25+43_25+44del
ENST00000456935.6:c.1420-112_1420-111del	ENSP00000395473.2:n.1420-112_1420-111del
ENST00000466794.5:n.1319-112_1319-111del
ENST00000495617.1:n.596-112_596-111del
ENST00000593686.1:c.30-112_30-111del
ENST00000595880.5:n.17-112_17-111del
NM_000528.3:c.1420-112_1420-111del	NP_000519.2:n.1420-112_1420-111del
NM_001173498.1:c.1417-112_1417-111del	NP_001166969.1:n.1417-112_1417-111del
XM_005259913.1:c.1423-112_1423-111del	XP_005259970.1:n.1423-112_1423-111del
XM_011528017.1:c.319-112_319-111del	XP_011526319.1:n.319-112_319-111del
XM_005259913.2:c.1423-112_1423-111del	XP_005259970.1:n.1423-112_1423-111del
XM_024451518.1:c.319-112_319-111del	XP_024307286.1:n.319-112_319-111del
NM_000528.4:c.1420-112_1420-111del MANE Select	NP_000519.2:n.1420-112_1420-111del
NM_001173498.2:c.1417-112_1417-111del	NP_001166969.1:n.1417-112_1417-111del