Canonical Allele Identifier: CA2582720219

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12656980-CTGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12656983_12656985del , CM000681.2:g.12656983_12656985del	GRCh38
NC_000019.9:g.12767797_12767799del , CM000681.1:g.12767797_12767799del	GRCh37
NC_000019.8:g.12628797_12628799del	NCBI36
NG_008318.1:g.14795_14797del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1493_1495del MANE Select	ENSP00000395473.2:p.Ile498del
ENST00000221363.8:c.1490_1492del	ENSP00000221363.4:p.Ile497del
ENST00000433513.5:n.99_101del
ENST00000456935.6:c.1493_1495del	ENSP00000395473.2:p.Ile498del
ENST00000466794.5:n.1392_1394del
ENST00000495617.1:n.669_671del
ENST00000593686.1:c.103_105del
ENST00000595880.5:n.90_92del
NM_000528.3:c.1493_1495del	NP_000519.2:p.Ile498del
NM_001173498.1:c.1490_1492del	NP_001166969.1:p.Ile497del
XM_005259913.1:c.1496_1498del	XP_005259970.1:p.Ile499del
XM_011528017.1:c.392_394del	XP_011526319.1:p.Ile131del
XM_005259913.2:c.1496_1498del	XP_005259970.1:p.Ile499del
XM_024451518.1:c.392_394del	XP_024307286.1:p.Ile131del
NM_000528.4:c.1493_1495del MANE Select	NP_000519.2:p.Ile498del
NM_001173498.2:c.1490_1492del	NP_001166969.1:p.Ile497del