Canonical Allele Identifier: CA711726328

Gene: HERC2

Linked Data

• dbSNP Id: rs1481211418
• gnomAD v3: 15-28268034-TC-T
• gnomAD v4: 15-28268034-TC-T
• MyVariant Identifiers: chr15:g.28513181del (hg19) ; chr15:g.28268035del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28268036del , CM000677.2:g.28268036del	GRCh38
NC_000015.9:g.28513182del , CM000677.1:g.28513182del	GRCh37
NC_000015.8:g.26186777del	NCBI36
NG_016355.1:g.59115del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.1598+430del MANE Select	ENSP00000261609.8:n.1598+430del
ENST00000261609.11:c.1598+430del	ENSP00000261609.7:n.1598+430del
ENST00000564734.5:c.*1468+430del	ENSP00000456237.1:n.*1468+430del
NM_004667.5:c.1598+430del	NP_004658.3:n.1598+430del
XM_005268276.3:c.1484+430del	XP_005268333.1:n.1484+430del
XM_005268277.3:c.1484+430del	XP_005268334.1:n.1484+430del
XM_006720726.2:c.1598+430del	XP_006720789.1:n.1598+430del
XM_006720727.2:c.1340+430del	XP_006720790.1:n.1340+430del
XM_011522131.1:c.1115+430del	XP_011520433.1:n.1115+430del
XM_011522132.1:c.107+4180del	XP_011520434.1:n.107+4180del
XM_011522133.1:c.322+24853del	XP_011520435.1:n.322+24853del
XM_011522135.1:c.1598+430del	XP_011520437.1:n.1598+430del
XM_011522136.1:c.1598+430del	XP_011520438.1:n.1598+430del
XM_011522137.1:c.1598+430del	XP_011520439.1:n.1598+430del
XR_931930.1:n.1727+430del
XR_931931.1:n.1727+430del
XM_005268276.5:c.1484+430del	XP_005268333.1:n.1484+430del
XM_006720726.3:c.1598+430del	XP_006720789.1:n.1598+430del
XM_006720727.3:c.1340+430del	XP_006720790.1:n.1340+430del
XM_017022695.1:c.1484+430del	XP_016878184.1:n.1484+430del
XM_017022696.1:c.1484+430del	XP_016878185.1:n.1484+430del
XR_001751410.1:n.1728+430del
XR_931930.2:n.1728+430del
NM_004667.6:c.1598+430del MANE Select	NP_004658.3:n.1598+430del