Canonical Allele Identifier: CA2166552750

Gene: HERC2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28268246_28268249delinsCAAG , CM000677.2:g.28268246_28268249delinsCAAG	GRCh38
NC_000015.9:g.28513392_28513395delinsCAAG , CM000677.1:g.28513392_28513395delinsCAAG	GRCh37
NC_000015.8:g.26186987_26186990delinsCAAG	NCBI36
NG_016355.1:g.58901_58904delinsCTTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000261609.13:c.1598+216_1598+219delinsCTTG MANE Select	ENSP00000261609.8:n.1598+216_1598+219deli...
ENST00000261609.11:c.1598+216_1598+219delinsCTTG	ENSP00000261609.7:n.1598+216_1598+219deli...
ENST00000564734.5:c.*1468+216_*1468+219delinsCTTG	ENSP00000456237.1:n.*1468+216_*1468+219de...
NM_004667.5:c.1598+216_1598+219delinsCTTG	NP_004658.3:n.1598+216_1598+219delinsCTTG...
XM_005268276.3:c.1484+216_1484+219delinsCTTG	XP_005268333.1:n.1484+216_1484+219delinsC...
XM_005268277.3:c.1484+216_1484+219delinsCTTG	XP_005268334.1:n.1484+216_1484+219delinsC...
XM_006720726.2:c.1598+216_1598+219delinsCTTG	XP_006720789.1:n.1598+216_1598+219delinsC...
XM_006720727.2:c.1340+216_1340+219delinsCTTG	XP_006720790.1:n.1340+216_1340+219delinsC...
XM_011522131.1:c.1115+216_1115+219delinsCTTG	XP_011520433.1:n.1115+216_1115+219delinsC...
XM_011522132.1:c.107+3966_107+3969delinsCTTG	XP_011520434.1:n.107+3966_107+3969delinsC...
XM_011522133.1:c.322+24639_322+24642delinsCTTG	XP_011520435.1:n.322+24639_322+24642delin...
XM_011522135.1:c.1598+216_1598+219delinsCTTG	XP_011520437.1:n.1598+216_1598+219delinsC...
XM_011522136.1:c.1598+216_1598+219delinsCTTG	XP_011520438.1:n.1598+216_1598+219delinsC...
XM_011522137.1:c.1598+216_1598+219delinsCTTG	XP_011520439.1:n.1598+216_1598+219delinsC...
XR_931930.1:n.1727+216_1727+219delinsCTTG
XR_931931.1:n.1727+216_1727+219delinsCTTG
XM_005268276.5:c.1484+216_1484+219delinsCTTG	XP_005268333.1:n.1484+216_1484+219delinsC...
XM_006720726.3:c.1598+216_1598+219delinsCTTG	XP_006720789.1:n.1598+216_1598+219delinsC...
XM_006720727.3:c.1340+216_1340+219delinsCTTG	XP_006720790.1:n.1340+216_1340+219delinsC...
XM_017022695.1:c.1484+216_1484+219delinsCTTG	XP_016878184.1:n.1484+216_1484+219delinsC...
XM_017022696.1:c.1484+216_1484+219delinsCTTG	XP_016878185.1:n.1484+216_1484+219delinsC...
XR_001751410.1:n.1728+216_1728+219delinsCTTG
XR_931930.2:n.1728+216_1728+219delinsCTTG
NM_004667.6:c.1598+216_1598+219delinsCTTG MANE Select	NP_004658.3:n.1598+216_1598+219delinsCTTG...