Canonical Allele Identifier: CA968034986

Gene: HERC2

Linked Data

• dbSNP Id: rs2076114850
• gnomAD v3: 15-28284919-G-GGAAAAA
• gnomAD v4: 15-28284919-G-GGAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28284919_28284920insGAAAAA , CM000677.2:g.28284919_28284920insGAAAAA	GRCh38
NC_000015.9:g.28530065_28530066insGAAAAA , CM000677.1:g.28530065_28530066insGAAAAA	GRCh37
NC_000015.8:g.26203660_26203661insGAAAAA	NCBI36
NG_016355.1:g.42230_42231insTTTTTC

Transcript Alleles

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