Canonical Allele Identifier: CA2166566489
Gene: HERC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28284949_28284952delinsAGAT , CM000677.2:g.28284949_28284952delinsAGAT GRCh38
NC_000015.9:g.28530095_28530098delinsAGAT , CM000677.1:g.28530095_28530098delinsAGAT GRCh37
NC_000015.8:g.26203690_26203693delinsAGAT NCBI36
NG_016355.1:g.42198_42201delinsATCT

Transcript Alleles

HGVS Amino-acid change
ENST00000261609.13:c.323-4665_323-4662delinsATCT MANE Select ENSP00000261609.8:n.323-4665_323-4662deli...
ENST00000261609.11:c.323-4665_323-4662delinsATCT ENSP00000261609.7:n.323-4665_323-4662deli...
ENST00000564383.1:n.218-4665_218-4662delinsATCT
ENST00000564734.5:c.*193-4665_*193-4662delinsATCT ENSP00000456237.1:n.*193-4665_*193-4662de...
NM_004667.5:c.323-4665_323-4662delinsATCT NP_004658.3:n.323-4665_323-4662delinsATCT...
XM_005268276.3:c.209-4665_209-4662delinsATCT XP_005268333.1:n.209-4665_209-4662delinsA...
XM_005268277.3:c.209-4665_209-4662delinsATCT XP_005268334.1:n.209-4665_209-4662delinsA...
XM_006720726.2:c.323-4665_323-4662delinsATCT XP_006720789.1:n.323-4665_323-4662delinsA...
XM_006720727.2:c.323-4665_323-4662delinsATCT XP_006720790.1:n.323-4665_323-4662delinsA...
XM_011522133.1:c.322+7936_322+7939delinsATCT XP_011520435.1:n.322+7936_322+7939delinsA...
XM_011522135.1:c.323-4665_323-4662delinsATCT XP_011520437.1:n.323-4665_323-4662delinsA...
XM_011522136.1:c.323-4665_323-4662delinsATCT XP_011520438.1:n.323-4665_323-4662delinsA...
XM_011522137.1:c.323-4665_323-4662delinsATCT XP_011520439.1:n.323-4665_323-4662delinsA...
XR_931930.1:n.452-4665_452-4662delinsATCT
XR_931931.1:n.452-4665_452-4662delinsATCT
XM_005268276.5:c.209-4665_209-4662delinsATCT XP_005268333.1:n.209-4665_209-4662delinsA...
XM_006720726.3:c.323-4665_323-4662delinsATCT XP_006720789.1:n.323-4665_323-4662delinsA...
XM_006720727.3:c.323-4665_323-4662delinsATCT XP_006720790.1:n.323-4665_323-4662delinsA...
XM_017022695.1:c.209-4665_209-4662delinsATCT XP_016878184.1:n.209-4665_209-4662delinsA...
XM_017022696.1:c.209-4665_209-4662delinsATCT XP_016878185.1:n.209-4665_209-4662delinsA...
XR_001751410.1:n.453-4665_453-4662delinsATCT
XR_931930.2:n.453-4665_453-4662delinsATCT
NM_004667.6:c.323-4665_323-4662delinsATCT MANE Select NP_004658.3:n.323-4665_323-4662delinsATCT...