Canonical Allele Identifier: CA2323506869

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663694_12663701delinsGCCCCCTA , CM000681.2:g.12663694_12663701delinsGCCCCCTA	GRCh38
NC_000019.9:g.12774508_12774515delinsGCCCCCTA , CM000681.1:g.12774508_12774515delinsGCCCCCTA	GRCh37
NC_000019.8:g.12635508_12635515delinsGCCCCCTA	NCBI36
NG_008318.1:g.8077_8084delinsTAGGGGGC
NG_015814.1:g.1891_1898delinsGCCCCCTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.763+2_763+9delinsTAGGGGGC MANE Select	ENSP00000395473.2:n.763+2_763+9delinsTAGG...
ENST00000221363.8:c.763+2_763+9delinsTAGGGGGC	ENSP00000221363.4:n.763+2_763+9delinsTAGG...
ENST00000456935.6:c.763+2_763+9delinsTAGGGGGC	ENSP00000395473.2:n.763+2_763+9delinsTAGG...
ENST00000466794.5:n.745+2_745+9delinsTAGGGGGC
ENST00000486847.2:c.466+2_466+9delinsTAGGGGGC	ENSP00000470174.1:n.466+2_466+9delinsTAGG...
NM_000528.3:c.763+2_763+9delinsTAGGGGGC	NP_000519.2:n.763+2_763+9delinsTAGGGGGC
NM_001173498.1:c.763+2_763+9delinsTAGGGGGC	NP_001166969.1:n.763+2_763+9delinsTAGGGGG...
XM_005259913.1:c.763+2_763+9delinsTAGGGGGC	XP_005259970.1:n.763+2_763+9delinsTAGGGGG...
XM_005259913.2:c.763+2_763+9delinsTAGGGGGC	XP_005259970.1:n.763+2_763+9delinsTAGGGGG...
XM_024451518.1:c.-256+2_-256+9delinsTAGGGGGC	XP_024307286.1:n.-256+2_-256+9delinsTAGGG...
NM_000528.4:c.763+2_763+9delinsTAGGGGGC MANE Select	NP_000519.2:n.763+2_763+9delinsTAGGGGGC
NM_001173498.2:c.763+2_763+9delinsTAGGGGGC	NP_001166969.1:n.763+2_763+9delinsTAGGGGG...