Canonical Allele Identifier: CA2582718821

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12650354-ATTCTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650357_12650361del , CM000681.2:g.12650357_12650361del	GRCh38
NC_000019.9:g.12761171_12761175del , CM000681.1:g.12761171_12761175del	GRCh37
NC_000019.8:g.12622171_12622175del	NCBI36
NG_008318.1:g.21419_21423del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2047-137_2047-133del MANE Select	ENSP00000395473.2:n.2047-137_2047-133del
ENST00000221363.8:c.2044-137_2044-133del	ENSP00000221363.4:n.2044-137_2044-133del
ENST00000456935.6:c.2047-137_2047-133del	ENSP00000395473.2:n.2047-137_2047-133del
ENST00000466794.5:n.2637-137_2637-133del
NM_000528.3:c.2047-137_2047-133del	NP_000519.2:n.2047-137_2047-133del
NM_001173498.1:c.2044-137_2044-133del	NP_001166969.1:n.2044-137_2044-133del
XM_005259913.1:c.2050-137_2050-133del	XP_005259970.1:n.2050-137_2050-133del
XM_011528017.1:c.946-137_946-133del	XP_011526319.1:n.946-137_946-133del
XM_005259913.2:c.2050-137_2050-133del	XP_005259970.1:n.2050-137_2050-133del
XM_024451518.1:c.946-137_946-133del	XP_024307286.1:n.946-137_946-133del
NM_000528.4:c.2047-137_2047-133del MANE Select	NP_000519.2:n.2047-137_2047-133del
NM_001173498.2:c.2044-137_2044-133del	NP_001166969.1:n.2044-137_2044-133del