Canonical Allele Identifier: CA2323498623

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647405_12647407delinsCCT , CM000681.2:g.12647405_12647407delinsCCT	GRCh38
NC_000019.9:g.12758219_12758221delinsCCT , CM000681.1:g.12758219_12758221delinsCCT	GRCh37
NC_000019.8:g.12619219_12619221delinsCCT	NCBI36
NG_008318.1:g.24371_24373delinsAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2820+36_2820+38delinsAGG MANE Select	ENSP00000395473.2:n.2820+36_2820+38delins...
ENST00000221363.8:c.2817+36_2817+38delinsAGG	ENSP00000221363.4:n.2817+36_2817+38delins...
ENST00000456935.6:c.2820+36_2820+38delinsAGG	ENSP00000395473.2:n.2820+36_2820+38delins...
ENST00000466794.5:n.3410+36_3410+38delinsAGG
ENST00000469423.1:n.178_180delinsAGG
ENST00000493218.5:n.231+36_231+38delinsAGG
ENST00000597692.1:c.379+36_379+38delinsAGG
NM_000528.3:c.2820+36_2820+38delinsAGG	NP_000519.2:n.2820+36_2820+38delinsAGG
NM_001173498.1:c.2817+36_2817+38delinsAGG	NP_001166969.1:n.2817+36_2817+38delinsAGG...
XM_005259913.1:c.2823+36_2823+38delinsAGG	XP_005259970.1:n.2823+36_2823+38delinsAGG...
XM_011528017.1:c.1719+36_1719+38delinsAGG	XP_011526319.1:n.1719+36_1719+38delinsAGG...
XM_005259913.2:c.2823+36_2823+38delinsAGG	XP_005259970.1:n.2823+36_2823+38delinsAGG...
XM_024451518.1:c.1719+36_1719+38delinsAGG	XP_024307286.1:n.1719+36_1719+38delinsAGG...
NM_000528.4:c.2820+36_2820+38delinsAGG MANE Select	NP_000519.2:n.2820+36_2820+38delinsAGG
NM_001173498.2:c.2817+36_2817+38delinsAGG	NP_001166969.1:n.2817+36_2817+38delinsAGG...