Canonical Allele Identifier: CA2166566537

Gene: HERC2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28285038_28285042delinsCCAAA , CM000677.2:g.28285038_28285042delinsCCAAA	GRCh38
NC_000015.9:g.28530184_28530188delinsCCAAA , CM000677.1:g.28530184_28530188delinsCCAAA	GRCh37
NC_000015.8:g.26203779_26203783delinsCCAAA	NCBI36
NG_016355.1:g.42108_42112delinsTTTGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000261609.13:c.323-4755_323-4751delinsTTTGG MANE Select	ENSP00000261609.8:n.323-4755_323-4751deli...
ENST00000261609.11:c.323-4755_323-4751delinsTTTGG	ENSP00000261609.7:n.323-4755_323-4751deli...
ENST00000564383.1:n.218-4755_218-4751delinsTTTGG
ENST00000564734.5:c.*193-4755_*193-4751delinsTTTGG	ENSP00000456237.1:n.*193-4755_*193-4751de...
NM_004667.5:c.323-4755_323-4751delinsTTTGG	NP_004658.3:n.323-4755_323-4751delinsTTTG...
XM_005268276.3:c.209-4755_209-4751delinsTTTGG	XP_005268333.1:n.209-4755_209-4751delinsT...
XM_005268277.3:c.209-4755_209-4751delinsTTTGG	XP_005268334.1:n.209-4755_209-4751delinsT...
XM_006720726.2:c.323-4755_323-4751delinsTTTGG	XP_006720789.1:n.323-4755_323-4751delinsT...
XM_006720727.2:c.323-4755_323-4751delinsTTTGG	XP_006720790.1:n.323-4755_323-4751delinsT...
XM_011522133.1:c.322+7846_322+7850delinsTTTGG	XP_011520435.1:n.322+7846_322+7850delinsT...
XM_011522135.1:c.323-4755_323-4751delinsTTTGG	XP_011520437.1:n.323-4755_323-4751delinsT...
XM_011522136.1:c.323-4755_323-4751delinsTTTGG	XP_011520438.1:n.323-4755_323-4751delinsT...
XM_011522137.1:c.323-4755_323-4751delinsTTTGG	XP_011520439.1:n.323-4755_323-4751delinsT...
XR_931930.1:n.452-4755_452-4751delinsTTTGG
XR_931931.1:n.452-4755_452-4751delinsTTTGG
XM_005268276.5:c.209-4755_209-4751delinsTTTGG	XP_005268333.1:n.209-4755_209-4751delinsT...
XM_006720726.3:c.323-4755_323-4751delinsTTTGG	XP_006720789.1:n.323-4755_323-4751delinsT...
XM_006720727.3:c.323-4755_323-4751delinsTTTGG	XP_006720790.1:n.323-4755_323-4751delinsT...
XM_017022695.1:c.209-4755_209-4751delinsTTTGG	XP_016878184.1:n.209-4755_209-4751delinsT...
XM_017022696.1:c.209-4755_209-4751delinsTTTGG	XP_016878185.1:n.209-4755_209-4751delinsT...
XR_001751410.1:n.453-4755_453-4751delinsTTTGG
XR_931930.2:n.453-4755_453-4751delinsTTTGG
NM_004667.6:c.323-4755_323-4751delinsTTTGG MANE Select	NP_004658.3:n.323-4755_323-4751delinsTTTG...