Canonical Allele Identifier: CA2576634833

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12649055-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649058del , CM000681.2:g.12649058del	GRCh38
NC_000019.9:g.12759872del , CM000681.1:g.12759872del	GRCh37
NC_000019.8:g.12620872del	NCBI36
NG_008318.1:g.22722del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2436+80del MANE Select	ENSP00000395473.2:n.2436+80del
ENST00000221363.8:c.2433+80del	ENSP00000221363.4:n.2433+80del
ENST00000456935.6:c.2436+80del	ENSP00000395473.2:n.2436+80del
ENST00000466794.5:n.3026+80del
NM_000528.3:c.2436+80del	NP_000519.2:n.2436+80del
NM_001173498.1:c.2433+80del	NP_001166969.1:n.2433+80del
XM_005259913.1:c.2439+80del	XP_005259970.1:n.2439+80del
XM_011528017.1:c.1335+80del	XP_011526319.1:n.1335+80del
XM_005259913.2:c.2439+80del	XP_005259970.1:n.2439+80del
XM_024451518.1:c.1335+80del	XP_024307286.1:n.1335+80del
NM_000528.4:c.2436+80del MANE Select	NP_000519.2:n.2436+80del
NM_001173498.2:c.2433+80del	NP_001166969.1:n.2433+80del