Canonical Allele Identifier: CA2562475229

Gene: HERC2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28284949_28284950insAAAAAAAAAAACAA , CM000677.2:g.28284949_28284950insAAAAAAAAAAACAA	GRCh38
NC_000015.9:g.28530095_28530096insAAAAAAAAAAACAA , CM000677.1:g.28530095_28530096insAAAAAAAAAAACAA	GRCh37
NC_000015.8:g.26203690_26203691insAAAAAAAAAAACAA	NCBI36
NG_016355.1:g.42202_42203insGTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.323-4661_323-4660insGTTTTTTTTTTTTT MANE Select	ENSP00000261609.8:n.323-4661_323-4660insGTTTTTTTTTTTTT
ENST00000261609.11:c.323-4661_323-4660insGTTTTTTTTTTTTT	ENSP00000261609.7:n.323-4661_323-4660insGTTTTTTTTTTTTT
ENST00000564383.1:n.218-4661_218-4660insGTTTTTTTTTTTTT
ENST00000564734.5:c.*193-4661_*193-4660insGTTTTTTTTTTTTT	ENSP00000456237.1:n.*193-4661_*193-4660insGTTTTTTTTTTTTT
NM_004667.5:c.323-4661_323-4660insGTTTTTTTTTTTTT	NP_004658.3:n.323-4661_323-4660insGTTTTTTTTTTTTT
XM_005268276.3:c.209-4661_209-4660insGTTTTTTTTTTTTT	XP_005268333.1:n.209-4661_209-4660insGTTTTTTTTTTTTT
XM_005268277.3:c.209-4661_209-4660insGTTTTTTTTTTTTT	XP_005268334.1:n.209-4661_209-4660insGTTTTTTTTTTTTT
XM_006720726.2:c.323-4661_323-4660insGTTTTTTTTTTTTT	XP_006720789.1:n.323-4661_323-4660insGTTTTTTTTTTTTT
XM_006720727.2:c.323-4661_323-4660insGTTTTTTTTTTTTT	XP_006720790.1:n.323-4661_323-4660insGTTTTTTTTTTTTT
XM_011522133.1:c.322+7940_322+7941insGTTTTTTTTTTTTT	XP_011520435.1:n.322+7940_322+7941insGTTTTTTTTTTTTT
XM_011522135.1:c.323-4661_323-4660insGTTTTTTTTTTTTT	XP_011520437.1:n.323-4661_323-4660insGTTTTTTTTTTTTT
XM_011522136.1:c.323-4661_323-4660insGTTTTTTTTTTTTT	XP_011520438.1:n.323-4661_323-4660insGTTTTTTTTTTTTT
XM_011522137.1:c.323-4661_323-4660insGTTTTTTTTTTTTT	XP_011520439.1:n.323-4661_323-4660insGTTTTTTTTTTTTT
XR_931930.1:n.452-4661_452-4660insGTTTTTTTTTTTTT
XR_931931.1:n.452-4661_452-4660insGTTTTTTTTTTTTT
XM_005268276.5:c.209-4661_209-4660insGTTTTTTTTTTTTT	XP_005268333.1:n.209-4661_209-4660insGTTTTTTTTTTTTT
XM_006720726.3:c.323-4661_323-4660insGTTTTTTTTTTTTT	XP_006720789.1:n.323-4661_323-4660insGTTTTTTTTTTTTT
XM_006720727.3:c.323-4661_323-4660insGTTTTTTTTTTTTT	XP_006720790.1:n.323-4661_323-4660insGTTTTTTTTTTTTT
XM_017022695.1:c.209-4661_209-4660insGTTTTTTTTTTTTT	XP_016878184.1:n.209-4661_209-4660insGTTTTTTTTTTTTT
XM_017022696.1:c.209-4661_209-4660insGTTTTTTTTTTTTT	XP_016878185.1:n.209-4661_209-4660insGTTTTTTTTTTTTT
XR_001751410.1:n.453-4661_453-4660insGTTTTTTTTTTTTT
XR_931930.2:n.453-4661_453-4660insGTTTTTTTTTTTTT
NM_004667.6:c.323-4661_323-4660insGTTTTTTTTTTTTT MANE Select	NP_004658.3:n.323-4661_323-4660insGTTTTTTTTTTTTT