Canonical Allele Identifier: CA818251337

Gene: EDN1

Linked Data

• dbSNP Id: rs1327252250
• MyVariant Identifiers: chr6:g.12290643_12290644insGTCCC (hg19) ; chr6:g.12290410_12290411insGTCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12290411_12290415dup , CM000668.2:g.12290411_12290415dup	GRCh38
NC_000006.11:g.12290644_12290648dup , CM000668.1:g.12290644_12290648dup	GRCh37
NC_000006.10:g.12398630_12398634dup	NCBI36
NG_016196.1:g.5116_5120dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.-219_-215dup MANE Select	ENSP00000368683.5:n.-219_-215dup
ENST00000379375.5:c.-219_-215dup	ENSP00000368683.5:n.-219_-215dup
NM_001168319.1:c.-219_-215dup	NP_001161791.1:n.-219_-215dup
NM_001955.4:c.-219_-215dup	NP_001946.3:n.-219_-215dup
XM_011514330.1:c.-1-218_-1-214dup	XP_011512632.1:n.-1-218_-1-214dup
XM_011514331.1:c.-1-218_-1-214dup	XP_011512633.1:n.-1-218_-1-214dup
XM_011514332.1:c.-1-218_-1-214dup	XP_011512634.1:n.-1-218_-1-214dup
XM_011514330.2:c.-1-218_-1-214dup	XP_011512632.1:n.-1-218_-1-214dup
XM_011514331.3:c.-1-218_-1-214dup	XP_011512633.1:n.-1-218_-1-214dup
XM_011514332.2:c.-1-218_-1-214dup	XP_011512634.1:n.-1-218_-1-214dup
XM_017010331.1:c.-1-218_-1-214dup	XP_016865820.1:n.-1-218_-1-214dup
NM_001955.5:c.-219_-215dup MANE Select	NP_001946.3:n.-219_-215dup
NM_001168319.2:c.-219_-215dup	NP_001161791.1:n.-219_-215dup