Canonical Allele Identifier: CA2582717872

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12649005-AAAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649013_12649016del , CM000681.2:g.12649013_12649016del	GRCh38
NC_000019.9:g.12759827_12759830del , CM000681.1:g.12759827_12759830del	GRCh37
NC_000019.8:g.12620827_12620830del	NCBI36
NG_008318.1:g.22769_22772del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2436+127_2436+130del MANE Select	ENSP00000395473.2:n.2436+127_2436+130del
ENST00000221363.8:c.2433+127_2433+130del	ENSP00000221363.4:n.2433+127_2433+130del
ENST00000456935.6:c.2436+127_2436+130del	ENSP00000395473.2:n.2436+127_2436+130del
ENST00000466794.5:n.3026+127_3026+130del
NM_000528.3:c.2436+127_2436+130del	NP_000519.2:n.2436+127_2436+130del
NM_001173498.1:c.2433+127_2433+130del	NP_001166969.1:n.2433+127_2433+130del
XM_005259913.1:c.2439+127_2439+130del	XP_005259970.1:n.2439+127_2439+130del
XM_011528017.1:c.1335+127_1335+130del	XP_011526319.1:n.1335+127_1335+130del
XM_005259913.2:c.2439+127_2439+130del	XP_005259970.1:n.2439+127_2439+130del
XM_024451518.1:c.1335+127_1335+130del	XP_024307286.1:n.1335+127_1335+130del
NM_000528.4:c.2436+127_2436+130del MANE Select	NP_000519.2:n.2436+127_2436+130del
NM_001173498.2:c.2433+127_2433+130del	NP_001166969.1:n.2433+127_2433+130del