Canonical Allele Identifier: CA2166566495
Gene: HERC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28284954_28284956delinsATT , CM000677.2:g.28284954_28284956delinsATT GRCh38
NC_000015.9:g.28530100_28530102delinsATT , CM000677.1:g.28530100_28530102delinsATT GRCh37
NC_000015.8:g.26203695_26203697delinsATT NCBI36
NG_016355.1:g.42194_42196delinsAAT

Transcript Alleles

HGVS Amino-acid change
ENST00000261609.13:c.323-4669_323-4667delinsAAT MANE Select ENSP00000261609.8:n.323-4669_323-4667deli...
ENST00000261609.11:c.323-4669_323-4667delinsAAT ENSP00000261609.7:n.323-4669_323-4667deli...
ENST00000564383.1:n.218-4669_218-4667delinsAAT
ENST00000564734.5:c.*193-4669_*193-4667delinsAAT ENSP00000456237.1:n.*193-4669_*193-4667de...
NM_004667.5:c.323-4669_323-4667delinsAAT NP_004658.3:n.323-4669_323-4667delinsAAT
XM_005268276.3:c.209-4669_209-4667delinsAAT XP_005268333.1:n.209-4669_209-4667delinsA...
XM_005268277.3:c.209-4669_209-4667delinsAAT XP_005268334.1:n.209-4669_209-4667delinsA...
XM_006720726.2:c.323-4669_323-4667delinsAAT XP_006720789.1:n.323-4669_323-4667delinsA...
XM_006720727.2:c.323-4669_323-4667delinsAAT XP_006720790.1:n.323-4669_323-4667delinsA...
XM_011522133.1:c.322+7932_322+7934delinsAAT XP_011520435.1:n.322+7932_322+7934delinsA...
XM_011522135.1:c.323-4669_323-4667delinsAAT XP_011520437.1:n.323-4669_323-4667delinsA...
XM_011522136.1:c.323-4669_323-4667delinsAAT XP_011520438.1:n.323-4669_323-4667delinsA...
XM_011522137.1:c.323-4669_323-4667delinsAAT XP_011520439.1:n.323-4669_323-4667delinsA...
XR_931930.1:n.452-4669_452-4667delinsAAT
XR_931931.1:n.452-4669_452-4667delinsAAT
XM_005268276.5:c.209-4669_209-4667delinsAAT XP_005268333.1:n.209-4669_209-4667delinsA...
XM_006720726.3:c.323-4669_323-4667delinsAAT XP_006720789.1:n.323-4669_323-4667delinsA...
XM_006720727.3:c.323-4669_323-4667delinsAAT XP_006720790.1:n.323-4669_323-4667delinsA...
XM_017022695.1:c.209-4669_209-4667delinsAAT XP_016878184.1:n.209-4669_209-4667delinsA...
XM_017022696.1:c.209-4669_209-4667delinsAAT XP_016878185.1:n.209-4669_209-4667delinsA...
XR_001751410.1:n.453-4669_453-4667delinsAAT
XR_931930.2:n.453-4669_453-4667delinsAAT
NM_004667.6:c.323-4669_323-4667delinsAAT MANE Select NP_004658.3:n.323-4669_323-4667delinsAAT