Canonical Allele Identifier: CA2803514281

Gene: HERC2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28284949_28284950insAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000677.2:g.28284949_28284950insAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000015.9:g.28530095_28530096insAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000677.1:g.28530095_28530096insAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000015.8:g.26203690_26203691insAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NCBI36
NG_016355.1:g.42230_42231insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.323-4633_323-4632insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000261609.8:n.323-4633_323-4632insTTTTTTTTGTTTTTTTTTTTT...
ENST00000261609.11:c.323-4633_323-4632insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000261609.7:n.323-4633_323-4632insTTTTTTTTGTTTTTTTTTTTT...
ENST00000564383.1:n.218-4633_218-4632insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000564734.5:c.*193-4633_*193-4632insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000456237.1:n.*193-4633_*193-4632insTTTTTTTTGTTTTTTTTTT...
NM_004667.5:c.323-4633_323-4632insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_004658.3:n.323-4633_323-4632insTTTTTTTTGTTTTTTTTTTTTTTTTTT...
XM_005268276.3:c.209-4633_209-4632insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_005268333.1:n.209-4633_209-4632insTTTTTTTTGTTTTTTTTTTTTTTT...
XM_005268277.3:c.209-4633_209-4632insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_005268334.1:n.209-4633_209-4632insTTTTTTTTGTTTTTTTTTTTTTTT...
XM_006720726.2:c.323-4633_323-4632insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_006720789.1:n.323-4633_323-4632insTTTTTTTTGTTTTTTTTTTTTTTT...
XM_006720727.2:c.323-4633_323-4632insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_006720790.1:n.323-4633_323-4632insTTTTTTTTGTTTTTTTTTTTTTTT...
XM_011522133.1:c.322+7968_322+7969insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011520435.1:n.322+7968_322+7969insTTTTTTTTGTTTTTTTTTTTTTTT...
XM_011522135.1:c.323-4633_323-4632insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011520437.1:n.323-4633_323-4632insTTTTTTTTGTTTTTTTTTTTTTTT...
XM_011522136.1:c.323-4633_323-4632insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011520438.1:n.323-4633_323-4632insTTTTTTTTGTTTTTTTTTTTTTTT...
XM_011522137.1:c.323-4633_323-4632insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011520439.1:n.323-4633_323-4632insTTTTTTTTGTTTTTTTTTTTTTTT...
XR_931930.1:n.452-4633_452-4632insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
XR_931931.1:n.452-4633_452-4632insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
XM_005268276.5:c.209-4633_209-4632insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_005268333.1:n.209-4633_209-4632insTTTTTTTTGTTTTTTTTTTTTTTT...
XM_006720726.3:c.323-4633_323-4632insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_006720789.1:n.323-4633_323-4632insTTTTTTTTGTTTTTTTTTTTTTTT...
XM_006720727.3:c.323-4633_323-4632insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_006720790.1:n.323-4633_323-4632insTTTTTTTTGTTTTTTTTTTTTTTT...
XM_017022695.1:c.209-4633_209-4632insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016878184.1:n.209-4633_209-4632insTTTTTTTTGTTTTTTTTTTTTTTT...
XM_017022696.1:c.209-4633_209-4632insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016878185.1:n.209-4633_209-4632insTTTTTTTTGTTTTTTTTTTTTTTT...
XR_001751410.1:n.453-4633_453-4632insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
XR_931930.2:n.453-4633_453-4632insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NM_004667.6:c.323-4633_323-4632insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	NP_004658.3:n.323-4633_323-4632insTTTTTTTTGTTTTTTTTTTTTTTTTTT...