Canonical Allele Identifier: CA636617671

Gene: EDN3

Linked Data

• dbSNP Id: rs1424090264
• gnomAD v2: 20-57876554-G-GA
• gnomAD v3: 20-59301499-G-GA
• gnomAD v4: 20-59301499-G-GA
• MyVariant Identifiers: chr20:g.57876554_57876555insA (hg19) ; chr20:g.59301499_59301500insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.59301500dup , CM000682.2:g.59301500dup	GRCh38
NC_000020.10:g.57876555dup , CM000682.1:g.57876555dup	GRCh37
NC_000020.9:g.57309950dup	NCBI36
NG_008050.1:g.6057dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337938.7:c.143dup MANE Select	ENSP00000337128.2:p.Thr49AspfsTer?
ENST00000644821.1:c.143dup	ENSP00000493472.1:p.Thr49AspfsTer?
ENST00000671744.1:n.784dup
ENST00000311585.11:c.143dup	ENSP00000311854.7:p.Thr49AspfsTer?
ENST00000337938.6:c.143dup	ENSP00000337128.2:p.Thr49AspfsTer?
ENST00000371025.7:c.143dup	ENSP00000360064.3:p.Thr49AspfsTer?
ENST00000371028.6:c.143dup	ENSP00000360067.2:p.Thr49AspfsTer?
ENST00000395654.3:c.143dup	ENSP00000379015.3:p.Thr49AspfsTer?
NM_001302455.1:c.143dup	NP_001289384.1:p.Thr49AspfsTer?
NM_001302456.1:c.143dup	NP_001289385.1:p.Thr49AspfsTer?
NM_207032.2:c.143dup	NP_996915.1:p.Thr49AspfsTer?
NM_207033.2:c.143dup	NP_996916.1:p.Thr49AspfsTer?
NM_207034.2:c.143dup	NP_996917.1:p.Thr49AspfsTer?
XM_005260312.3:c.143dup	XP_005260369.1:p.Thr49AspfsTer?
XM_005260313.3:c.143dup	XP_005260370.1:p.Thr49AspfsTer?
XM_006723734.2:c.143dup	XP_006723797.1:p.Thr49AspfsTer?
XM_011528655.1:c.143dup	XP_011526957.1:p.Thr49AspfsTer?
XR_936513.1:n.532dup
XM_005260312.4:c.143dup	XP_005260369.1:p.Thr49AspfsTer?
XM_005260313.5:c.143dup	XP_005260370.1:p.Thr49AspfsTer?
XM_006723734.3:c.143dup	XP_006723797.1:p.Thr49AspfsTer?
XM_011528655.2:c.143dup	XP_011526957.1:p.Thr49AspfsTer?
XM_024451847.1:c.143dup	XP_024307615.1:p.Thr49AspfsTer?
XM_024451848.1:c.143dup	XP_024307616.1:p.Thr49AspfsTer?
XR_002958461.1:n.541dup
XR_002958462.1:n.541dup
XR_936513.2:n.540dup
NM_207034.3:c.143dup MANE Select	NP_996917.1:p.Thr49AspfsTer?
NM_001302455.2:c.143dup	NP_001289384.1:p.Thr49AspfsTer?
NM_001302456.2:c.143dup	NP_001289385.1:p.Thr49AspfsTer?
NM_207032.3:c.143dup	NP_996915.1:p.Thr49AspfsTer?
NM_207033.3:c.143dup	NP_996916.1:p.Thr49AspfsTer?