Canonical Allele Identifier: CA2573156434

Gene: ETHE1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43511530del , CM000681.2:g.43511530del	GRCh38
NC_000019.9:g.44015682del , CM000681.1:g.44015682del	GRCh37
NC_000019.8:g.48707522del	NCBI36
NG_008141.1:g.20716del

Transcript Alleles

HGVS	Amino-acid Change
NM_014297.5:c.413del MANE Select	NP_055112.2:p.Gly138AlafsTer7
ENST00000292147.7:c.413del MANE Select	ENSP00000292147.1:p.Gly138AlafsTer7
NM_001320867.1:c.380del	NP_001307796.1:p.Gly127AlafsTer7
NM_001320867.2:c.380del	NP_001307796.1:p.Gly127AlafsTer7
NM_001320868.1:c.44del	NP_001307797.1:p.Gly15AlafsTer7
NM_001320868.2:c.44del	NP_001307797.1:p.Gly15AlafsTer7
NM_001320869.1:c.119del	NP_001307798.1:p.Gly40AlafsTer7
NM_001320869.2:c.119del	NP_001307798.1:p.Gly40AlafsTer7
NM_014297.3:c.413del	NP_055112.2:p.Gly138AlafsTer7
NM_014297.4:c.413del	NP_055112.2:p.Gly138AlafsTer7
ENST00000292147.6:c.413del	ENSP00000292147.1:p.Gly138AlafsTer7
ENST00000594342.5:c.264del	ENSP00000469652.1:p.Arg88SerfsTer?
ENST00000598330.1:c.264del	ENSP00000469219.1:p.Arg88SerfsTer?
ENST00000600651.5:c.413del	ENSP00000469037.1:p.Gly138AlafsTer7
ENST00000602138.1:c.*417del	ENSP00000468964.1:n.*417del
XM_005258687.2:c.332del	XP_005258744.1:p.Gly111AlafsTer7
XM_005258687.4:c.332del	XP_005258744.1:p.Gly111AlafsTer7
XM_005258688.2:c.44del	XP_005258745.1:p.Gly15AlafsTer7
XM_011526685.1:c.227-2665del	XP_011524987.1:n.227-2665del