Canonical Allele Identifier: CA2166566457

Gene: HERC2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28284917_28284918delinsCG , CM000677.2:g.28284917_28284918delinsCG	GRCh38
NC_000015.9:g.28530063_28530064delinsCG , CM000677.1:g.28530063_28530064delinsCG	GRCh37
NC_000015.8:g.26203658_26203659delinsCG	NCBI36
NG_016355.1:g.42232_42233delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.323-4631_323-4630delinsCG MANE Select	ENSP00000261609.8:n.323-4631_323-4630delinsCG
ENST00000261609.11:c.323-4631_323-4630delinsCG	ENSP00000261609.7:n.323-4631_323-4630delinsCG
ENST00000564383.1:n.218-4631_218-4630delinsCG
ENST00000564734.5:c.*193-4631_*193-4630delinsCG	ENSP00000456237.1:n.*193-4631_*193-4630delinsCG
NM_004667.5:c.323-4631_323-4630delinsCG	NP_004658.3:n.323-4631_323-4630delinsCG
XM_005268276.3:c.209-4631_209-4630delinsCG	XP_005268333.1:n.209-4631_209-4630delinsCG
XM_005268277.3:c.209-4631_209-4630delinsCG	XP_005268334.1:n.209-4631_209-4630delinsCG
XM_006720726.2:c.323-4631_323-4630delinsCG	XP_006720789.1:n.323-4631_323-4630delinsCG
XM_006720727.2:c.323-4631_323-4630delinsCG	XP_006720790.1:n.323-4631_323-4630delinsCG
XM_011522133.1:c.322+7970_322+7971delinsCG	XP_011520435.1:n.322+7970_322+7971delinsCG
XM_011522135.1:c.323-4631_323-4630delinsCG	XP_011520437.1:n.323-4631_323-4630delinsCG
XM_011522136.1:c.323-4631_323-4630delinsCG	XP_011520438.1:n.323-4631_323-4630delinsCG
XM_011522137.1:c.323-4631_323-4630delinsCG	XP_011520439.1:n.323-4631_323-4630delinsCG
XR_931930.1:n.452-4631_452-4630delinsCG
XR_931931.1:n.452-4631_452-4630delinsCG
XM_005268276.5:c.209-4631_209-4630delinsCG	XP_005268333.1:n.209-4631_209-4630delinsCG
XM_006720726.3:c.323-4631_323-4630delinsCG	XP_006720789.1:n.323-4631_323-4630delinsCG
XM_006720727.3:c.323-4631_323-4630delinsCG	XP_006720790.1:n.323-4631_323-4630delinsCG
XM_017022695.1:c.209-4631_209-4630delinsCG	XP_016878184.1:n.209-4631_209-4630delinsCG
XM_017022696.1:c.209-4631_209-4630delinsCG	XP_016878185.1:n.209-4631_209-4630delinsCG
XR_001751410.1:n.453-4631_453-4630delinsCG
XR_931930.2:n.453-4631_453-4630delinsCG
NM_004667.6:c.323-4631_323-4630delinsCG MANE Select	NP_004658.3:n.323-4631_323-4630delinsCG