Canonical Allele Identifier: CA2653546590

Gene: EDN3

Linked Data

• gnomAD v4: 20-59300864-G-GTTA

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.59300864_59300865insTTA , CM000682.2:g.59300864_59300865insTTA	GRCh38
NC_000020.10:g.57875919_57875920insTTA , CM000682.1:g.57875919_57875920insTTA	GRCh37
NC_000020.9:g.57309314_57309315insTTA	NCBI36
NG_008050.1:g.5421_5422insTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337938.7:c.52_52+1insTTA MANE Select	ENSP00000337128.2:n.52_52+1insTTA
ENST00000644821.1:c.52_52+1insTTA	ENSP00000493472.1:n.52_52+1insTTA
ENST00000671744.1:n.148_149insTTA
ENST00000311585.11:c.52_52+1insTTA	ENSP00000311854.7:n.52_52+1insTTA
ENST00000337938.6:c.52_52+1insTTA	ENSP00000337128.2:n.52_52+1insTTA
ENST00000371025.7:c.52_52+1insTTA	ENSP00000360064.3:n.52_52+1insTTA
ENST00000371028.6:c.52_52+1insTTA	ENSP00000360067.2:n.52_52+1insTTA
ENST00000395654.3:c.52_52+1insTTA	ENSP00000379015.3:n.52_52+1insTTA
NM_001302455.1:c.52_52+1insTTA	NP_001289384.1:n.52_52+1insTTA
NM_001302456.1:c.52_52+1insTTA	NP_001289385.1:n.52_52+1insTTA
NM_207032.2:c.52_52+1insTTA	NP_996915.1:n.52_52+1insTTA
NM_207033.2:c.52_52+1insTTA	NP_996916.1:n.52_52+1insTTA
NM_207034.2:c.52_52+1insTTA	NP_996917.1:n.52_52+1insTTA
XM_005260312.3:c.52_52+1insTTA	XP_005260369.1:n.52_52+1insTTA
XM_005260313.3:c.52_52+1insTTA	XP_005260370.1:n.52_52+1insTTA
XM_006723734.2:c.52_52+1insTTA	XP_006723797.1:n.52_52+1insTTA
XM_011528655.1:c.52_52+1insTTA	XP_011526957.1:n.52_52+1insTTA
XR_936513.1:n.441_441+1insTTA
XM_005260312.4:c.52_52+1insTTA	XP_005260369.1:n.52_52+1insTTA
XM_005260313.5:c.52_52+1insTTA	XP_005260370.1:n.52_52+1insTTA
XM_006723734.3:c.52_52+1insTTA	XP_006723797.1:n.52_52+1insTTA
XM_011528655.2:c.52_52+1insTTA	XP_011526957.1:n.52_52+1insTTA
XM_024451847.1:c.52_52+1insTTA	XP_024307615.1:n.52_52+1insTTA
XM_024451848.1:c.52_52+1insTTA	XP_024307616.1:n.52_52+1insTTA
XR_002958461.1:n.450_450+1insTTA
XR_002958462.1:n.450_450+1insTTA
XR_936513.2:n.449_449+1insTTA
NM_207034.3:c.52_52+1insTTA MANE Select	NP_996917.1:n.52_52+1insTTA
NM_001302455.2:c.52_52+1insTTA	NP_001289384.1:n.52_52+1insTTA
NM_001302456.2:c.52_52+1insTTA	NP_001289385.1:n.52_52+1insTTA
NM_207032.3:c.52_52+1insTTA	NP_996915.1:n.52_52+1insTTA
NM_207033.3:c.52_52+1insTTA	NP_996916.1:n.52_52+1insTTA