Canonical Allele Identifier: CA645570859

Gene: HELZ

Linked Data

• COSMIC: COSM1254098

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.67128790_67128791delinsAT , CM000679.2:g.67128790_67128791delinsAT	GRCh38
NC_000017.10:g.65124906_65124907delinsAT , CM000679.1:g.65124906_65124907delinsAT	GRCh37
NC_000017.9:g.62555368_62555369delinsAT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358691.10:c.3247_3248delinsAT MANE Select	ENSP00000351524.5:p.Glu1083Ile
ENST00000358691.9:c.3247_3248delinsAT	ENSP00000351524.5:p.Glu1083Ile
ENST00000579953.5:c.3250_3251delinsAT	ENSP00000463727.1:p.Glu1084Ile
ENST00000580168.5:c.3250_3251delinsAT	ENSP00000464512.1:p.Glu1084Ile
NM_014877.3:c.3247_3248delinsAT	NP_055692.2:p.Glu1083Ile
XM_005257888.3:c.3328_3329delinsAT	XP_005257945.1:p.Glu1110Ile
XM_005257889.3:c.3250_3251delinsAT	XP_005257946.1:p.Glu1084Ile
XM_005257890.3:c.3226_3227delinsAT	XP_005257947.1:p.Glu1076Ile
XM_006722214.2:c.3331_3332delinsAT	XP_006722277.1:p.Glu1111Ile
XM_006722215.2:c.2626_2627delinsAT	XP_006722278.1:p.Glu876Ile
XM_006722216.2:c.2155_2156delinsAT	XP_006722279.1:p.Glu719Ile
XM_011525544.1:c.3331_3332delinsAT	XP_011523846.1:p.Glu1111Ile
XM_011525545.1:c.3331_3332delinsAT	XP_011523847.1:p.Glu1111Ile
XR_934629.1:n.3322_3323delinsAT
NM_001330447.1:c.3250_3251delinsAT	NP_001317376.1:p.Glu1084Ile
XM_005257888.5:c.3328_3329delinsAT	XP_005257945.1:p.Glu1110Ile
XM_006722214.4:c.3331_3332delinsAT	XP_006722277.1:p.Glu1111Ile
XM_006722215.3:c.2626_2627delinsAT	XP_006722278.1:p.Glu876Ile
XM_006722216.3:c.2155_2156delinsAT	XP_006722279.1:p.Glu719Ile
XM_011525544.2:c.3331_3332delinsAT	XP_011523846.1:p.Glu1111Ile
XM_017025477.2:c.2542_2543delinsAT	XP_016880966.1:p.Glu848Ile
XM_017025478.1:c.2074_2075delinsAT	XP_016880967.1:p.Glu692Ile
XR_001752712.2:n.3422_3423delinsAT
XR_001752713.2:n.3274_3275delinsAT
XR_001752714.2:n.3190_3191delinsAT
NM_014877.4:c.3247_3248delinsAT MANE Select	NP_055692.3:p.Glu1083Ile
NM_001330447.2:c.3250_3251delinsAT	NP_001317376.2:p.Glu1084Ile