Canonical Allele Identifier: CA2323498616

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647394_12647396delinsCCT , CM000681.2:g.12647394_12647396delinsCCT	GRCh38
NC_000019.9:g.12758208_12758210delinsCCT , CM000681.1:g.12758208_12758210delinsCCT	GRCh37
NC_000019.8:g.12619208_12619210delinsCCT	NCBI36
NG_008318.1:g.24382_24384delinsAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2820+47_2820+49delinsAGG MANE Select	ENSP00000395473.2:n.2820+47_2820+49delins...
ENST00000221363.8:c.2817+47_2817+49delinsAGG	ENSP00000221363.4:n.2817+47_2817+49delins...
ENST00000456935.6:c.2820+47_2820+49delinsAGG	ENSP00000395473.2:n.2820+47_2820+49delins...
ENST00000466794.5:n.3410+47_3410+49delinsAGG
ENST00000469423.1:n.189_191delinsAGG
ENST00000493218.5:n.231+47_231+49delinsAGG
ENST00000597692.1:c.379+47_379+49delinsAGG
NM_000528.3:c.2820+47_2820+49delinsAGG	NP_000519.2:n.2820+47_2820+49delinsAGG
NM_001173498.1:c.2817+47_2817+49delinsAGG	NP_001166969.1:n.2817+47_2817+49delinsAGG...
XM_005259913.1:c.2823+47_2823+49delinsAGG	XP_005259970.1:n.2823+47_2823+49delinsAGG...
XM_011528017.1:c.1719+47_1719+49delinsAGG	XP_011526319.1:n.1719+47_1719+49delinsAGG...
XM_005259913.2:c.2823+47_2823+49delinsAGG	XP_005259970.1:n.2823+47_2823+49delinsAGG...
XM_024451518.1:c.1719+47_1719+49delinsAGG	XP_024307286.1:n.1719+47_1719+49delinsAGG...
NM_000528.4:c.2820+47_2820+49delinsAGG MANE Select	NP_000519.2:n.2820+47_2820+49delinsAGG
NM_001173498.2:c.2817+47_2817+49delinsAGG	NP_001166969.1:n.2817+47_2817+49delinsAGG...