Canonical Allele Identifier: CA2323500077

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650102_12650103delinsAC , CM000681.2:g.12650102_12650103delinsAC	GRCh38
NC_000019.9:g.12760916_12760917delinsAC , CM000681.1:g.12760916_12760917delinsAC	GRCh37
NC_000019.8:g.12621916_12621917delinsAC	NCBI36
NG_008318.1:g.21675_21676delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2165+1_2165+2delinsGT MANE Select	ENSP00000395473.2:n.2165+1_2165+2delinsGT
ENST00000221363.8:c.2162+1_2162+2delinsGT	ENSP00000221363.4:n.2162+1_2162+2delinsGT
ENST00000456935.6:c.2165+1_2165+2delinsGT	ENSP00000395473.2:n.2165+1_2165+2delinsGT
ENST00000466794.5:n.2755+1_2755+2delinsGT
NM_000528.3:c.2165+1_2165+2delinsGT	NP_000519.2:n.2165+1_2165+2delinsGT
NM_001173498.1:c.2162+1_2162+2delinsGT	NP_001166969.1:n.2162+1_2162+2delinsGT
XM_005259913.1:c.2168+1_2168+2delinsGT	XP_005259970.1:n.2168+1_2168+2delinsGT
XM_011528017.1:c.1064+1_1064+2delinsGT	XP_011526319.1:n.1064+1_1064+2delinsGT
XM_005259913.2:c.2168+1_2168+2delinsGT	XP_005259970.1:n.2168+1_2168+2delinsGT
XM_024451518.1:c.1064+1_1064+2delinsGT	XP_024307286.1:n.1064+1_1064+2delinsGT
NM_000528.4:c.2165+1_2165+2delinsGT MANE Select	NP_000519.2:n.2165+1_2165+2delinsGT
NM_001173498.2:c.2162+1_2162+2delinsGT	NP_001166969.1:n.2162+1_2162+2delinsGT