Canonical Allele Identifier: CA711738921

Gene: HERC2

Linked Data

• dbSNP Id: rs551327935
• gnomAD v3: 15-28284919-GAAAAAAA-G
• gnomAD v4: 15-28284919-GAAAAAAA-G
• MyVariant Identifiers: chr15:g.28530066_28530072del (hg19) ; chr15:g.28284920_28284926del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28284943_28284949del , CM000677.2:g.28284943_28284949del	GRCh38
NC_000015.9:g.28530089_28530095del , CM000677.1:g.28530089_28530095del	GRCh37
NC_000015.8:g.26203684_26203690del	NCBI36
NG_016355.1:g.42224_42230del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.323-4639_323-4633del MANE Select	ENSP00000261609.8:n.323-4639_323-4633del
ENST00000261609.11:c.323-4639_323-4633del	ENSP00000261609.7:n.323-4639_323-4633del
ENST00000564383.1:n.218-4639_218-4633del
ENST00000564734.5:c.*193-4639_*193-4633del	ENSP00000456237.1:n.*193-4639_*193-4633del
NM_004667.5:c.323-4639_323-4633del	NP_004658.3:n.323-4639_323-4633del
XM_005268276.3:c.209-4639_209-4633del	XP_005268333.1:n.209-4639_209-4633del
XM_005268277.3:c.209-4639_209-4633del	XP_005268334.1:n.209-4639_209-4633del
XM_006720726.2:c.323-4639_323-4633del	XP_006720789.1:n.323-4639_323-4633del
XM_006720727.2:c.323-4639_323-4633del	XP_006720790.1:n.323-4639_323-4633del
XM_011522133.1:c.322+7962_322+7968del	XP_011520435.1:n.322+7962_322+7968del
XM_011522135.1:c.323-4639_323-4633del	XP_011520437.1:n.323-4639_323-4633del
XM_011522136.1:c.323-4639_323-4633del	XP_011520438.1:n.323-4639_323-4633del
XM_011522137.1:c.323-4639_323-4633del	XP_011520439.1:n.323-4639_323-4633del
XR_931930.1:n.452-4639_452-4633del
XR_931931.1:n.452-4639_452-4633del
XM_005268276.5:c.209-4639_209-4633del	XP_005268333.1:n.209-4639_209-4633del
XM_006720726.3:c.323-4639_323-4633del	XP_006720789.1:n.323-4639_323-4633del
XM_006720727.3:c.323-4639_323-4633del	XP_006720790.1:n.323-4639_323-4633del
XM_017022695.1:c.209-4639_209-4633del	XP_016878184.1:n.209-4639_209-4633del
XM_017022696.1:c.209-4639_209-4633del	XP_016878185.1:n.209-4639_209-4633del
XR_001751410.1:n.453-4639_453-4633del
XR_931930.2:n.453-4639_453-4633del
NM_004667.6:c.323-4639_323-4633del MANE Select	NP_004658.3:n.323-4639_323-4633del