Canonical Allele Identifier: CA2590339763

Gene: HERC2

Linked Data

• gnomAD v3: 15-28284919-G-GAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
• gnomAD v4: 15-28284919-G-GAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28284922_28284923insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000677.2:g.28284922_28284923insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000015.9:g.28530068_28530069insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000677.1:g.28530068_28530069insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000015.8:g.26203663_26203664insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NCBI36
NG_016355.1:g.42230_42231insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTT

Transcript Alleles

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