Canonical Allele Identifier: CA2677349989

Gene: EDN1

Linked Data

• gnomAD v4: 6-12292507-CGAGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12292508_12292511del , CM000668.2:g.12292508_12292511del	GRCh38
NC_000006.11:g.12292741_12292744del , CM000668.1:g.12292741_12292744del	GRCh37
NC_000006.10:g.12400727_12400730del	NCBI36
NG_016196.1:g.7213_7216del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.232_233+2del
ENST00000379375.5:c.232_233+2del
NM_001168319.1:c.229_230+2del
NM_001955.4:c.232_233+2del
XM_011514330.1:c.232_233+2del
XM_011514331.1:c.232_233+2del
XM_011514332.1:c.229_230+2del
XM_011514330.2:c.232_233+2del
XM_011514331.3:c.232_233+2del
XM_011514332.2:c.229_230+2del
XM_017010331.1:c.232_233+2del
NM_001955.5:c.232_233+2del
NM_001168319.2:c.229_230+2del