Canonical Allele Identifier: CA993650447

Gene: MAN2B1

Linked Data

• gnomAD v3: 19-12663393-AGCGGCT-A
• gnomAD v4: 19-12663393-AGCGGCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663395_12663400del , CM000681.2:g.12663395_12663400del	GRCh38
NC_000019.9:g.12774209_12774214del , CM000681.1:g.12774209_12774214del	GRCh37
NC_000019.8:g.12635209_12635214del	NCBI36
NG_008318.1:g.8379_8384del
NG_015814.1:g.1592_1597del

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.827_832del MANE Select	ENSP00000395473.2:p.Gln276_Pro277del
ENST00000221363.8:c.827_832del	ENSP00000221363.4:p.Gln276_Pro277del
ENST00000456935.6:c.827_832del	ENSP00000395473.2:p.Gln276_Pro277del
ENST00000462144.1:n.20_25del
ENST00000466794.5:n.809_814del
NM_000528.3:c.827_832del	NP_000519.2:p.Gln276_Pro277del
NM_001173498.1:c.827_832del	NP_001166969.1:p.Gln276_Pro277del
XM_005259913.1:c.827_832del	XP_005259970.1:p.Gln276_Pro277del
XM_005259913.2:c.827_832del	XP_005259970.1:p.Gln276_Pro277del
XM_024451518.1:c.-192_-187del	XP_024307286.1:n.-192_-187del
NM_000528.4:c.827_832del MANE Select	NP_000519.2:p.Gln276_Pro277del
NM_001173498.2:c.827_832del	NP_001166969.1:p.Gln276_Pro277del