Canonical Allele Identifier: CA2813644430

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647362_12647363insCTGTCTCTTATACACATCTCGC , CM000681.2:g.12647362_12647363insCTGTCTCTTATACACATCTCGC	GRCh38
NC_000019.9:g.12758176_12758177insCTGTCTCTTATACACATCTCGC , CM000681.1:g.12758176_12758177insCTGTCTCTTATACACATCTCGC	GRCh37
NC_000019.8:g.12619176_12619177insCTGTCTCTTATACACATCTCGC	NCBI36
NG_008318.1:g.24415_24416insGCGAGATGTGTATAAGAGACAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2821-28_2821-27insGCGAGATGTGTATAAGAGACAG MANE Select	ENSP00000395473.2:n.2821-28_2821-27insGCGAGATGTGTATAAGAGACAG
ENST00000221363.8:c.2818-28_2818-27insGCGAGATGTGTATAAGAGACAG	ENSP00000221363.4:n.2818-28_2818-27insGCGAGATGTGTATAAGAGACAG
ENST00000456935.6:c.2821-28_2821-27insGCGAGATGTGTATAAGAGACAG	ENSP00000395473.2:n.2821-28_2821-27insGCGAGATGTGTATAAGAGACAG
ENST00000466794.5:n.3411-28_3411-27insGCGAGATGTGTATAAGAGACAG
ENST00000469423.1:n.222_223insGCGAGATGTGTATAAGAGACAG
ENST00000493218.5:n.232-28_232-27insGCGAGATGTGTATAAGAGACAG
ENST00000597692.1:c.380-28_380-27insGCGAGATGTGTATAAGAGACAG
NM_000528.3:c.2821-28_2821-27insGCGAGATGTGTATAAGAGACAG	NP_000519.2:n.2821-28_2821-27insGCGAGATGTGTATAAGAGACAG
NM_001173498.1:c.2818-28_2818-27insGCGAGATGTGTATAAGAGACAG	NP_001166969.1:n.2818-28_2818-27insGCGAGATGTGTATAAGAGACAG
XM_005259913.1:c.2824-28_2824-27insGCGAGATGTGTATAAGAGACAG	XP_005259970.1:n.2824-28_2824-27insGCGAGATGTGTATAAGAGACAG
XM_011528017.1:c.1720-28_1720-27insGCGAGATGTGTATAAGAGACAG	XP_011526319.1:n.1720-28_1720-27insGCGAGATGTGTATAAGAGACAG
XM_005259913.2:c.2824-28_2824-27insGCGAGATGTGTATAAGAGACAG	XP_005259970.1:n.2824-28_2824-27insGCGAGATGTGTATAAGAGACAG
XM_024451518.1:c.1720-28_1720-27insGCGAGATGTGTATAAGAGACAG	XP_024307286.1:n.1720-28_1720-27insGCGAGATGTGTATAAGAGACAG
NM_000528.4:c.2821-28_2821-27insGCGAGATGTGTATAAGAGACAG MANE Select	NP_000519.2:n.2821-28_2821-27insGCGAGATGTGTATAAGAGACAG
NM_001173498.2:c.2818-28_2818-27insGCGAGATGTGTATAAGAGACAG	NP_001166969.1:n.2818-28_2818-27insGCGAGATGTGTATAAGAGACAG