Canonical Allele Identifier: CA322384
Gene: ETHE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 214325
ClinVar RCV Id: RCV000197919 RCV003462307
dbSNP Id: rs863223956
MyVariant Identifiers: chr19:g.44012205_44012206del (hg19) chr19:g.43508053_43508054del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.43508055_43508056del , CM000681.2:g.43508055_43508056del GRCh38
NC_000019.9:g.44012207_44012208del , CM000681.1:g.44012207_44012208del GRCh37
NC_000019.8:g.48704047_48704048del NCBI36
NG_008141.1:g.24191_24192del

Transcript Alleles

HGVS Amino-acid change
ENST00000292147.7:c.602_603del MANE Select ENSP00000292147.1:p.Thr201SerfsTer19
ENST00000292147.6:c.602_603del ENSP00000292147.1:p.Thr201SerfsTer19
ENST00000594342.5:c.*165_*166del ENSP00000469652.1:n.*165_*166del
ENST00000598330.1:c.*165_*166del ENSP00000469219.1:n.*165_*166del
ENST00000600651.5:c.602_603del ENSP00000469037.1:p.Thr201SerfsTer19
NM_014297.3:c.602_603del NP_055112.2:p.Thr201SerfsTer19
XM_005258687.2:c.521_522del XP_005258744.1:p.Thr174SerfsTer19
XM_005258688.2:c.233_234del XP_005258745.1:p.Thr78SerfsTer19
XM_011526685.1:c.323_324del XP_011524987.1:p.Thr108SerfsTer19
NM_001320867.1:c.569_570del NP_001307796.1:p.Thr190SerfsTer19
NM_001320868.1:c.233_234del NP_001307797.1:p.Thr78SerfsTer19
NM_001320869.1:c.308_309del NP_001307798.1:p.Thr103SerfsTer19
NM_014297.4:c.602_603del NP_055112.2:p.Thr201SerfsTer19
XM_005258687.4:c.521_522del XP_005258744.1:p.Thr174SerfsTer19
NM_014297.5:c.602_603del MANE Select NP_055112.2:p.Thr201SerfsTer19
NM_001320867.2:c.569_570del NP_001307796.1:p.Thr190SerfsTer19
NM_001320868.2:c.233_234del NP_001307797.1:p.Thr78SerfsTer19
NM_001320869.2:c.308_309del NP_001307798.1:p.Thr103SerfsTer19
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