Canonical Allele Identifier: CA2576634847

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649232_12649233del , CM000681.2:g.12649232_12649233del	GRCh38
NC_000019.9:g.12760046_12760047del , CM000681.1:g.12760046_12760047del	GRCh37
NC_000019.8:g.12621046_12621047del	NCBI36
NG_008318.1:g.22546_22547del

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2356-16_2356-15del MANE Select	ENSP00000395473.2:n.2356-16_2356-15del
ENST00000221363.8:c.2353-16_2353-15del	ENSP00000221363.4:n.2353-16_2353-15del
ENST00000456935.6:c.2356-16_2356-15del	ENSP00000395473.2:n.2356-16_2356-15del
ENST00000466794.5:n.2946-16_2946-15del
NM_000528.3:c.2356-16_2356-15del	NP_000519.2:n.2356-16_2356-15del
NM_001173498.1:c.2353-16_2353-15del	NP_001166969.1:n.2353-16_2353-15del
XM_005259913.1:c.2359-16_2359-15del	XP_005259970.1:n.2359-16_2359-15del
XM_011528017.1:c.1255-16_1255-15del	XP_011526319.1:n.1255-16_1255-15del
XM_005259913.2:c.2359-16_2359-15del	XP_005259970.1:n.2359-16_2359-15del
XM_024451518.1:c.1255-16_1255-15del	XP_024307286.1:n.1255-16_1255-15del
NM_000528.4:c.2356-16_2356-15del MANE Select	NP_000519.2:n.2356-16_2356-15del
NM_001173498.2:c.2353-16_2353-15del	NP_001166969.1:n.2353-16_2353-15del