Canonical Allele Identifier: CA658799240
Gene: ETHE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 504504
ClinVar RCV Id: RCV000599349
dbSNP Id: rs1555761934
MyVariant Identifiers: chr19:g.44012204dup (hg19) chr19:g.43508052dup (hg38)
ERepo: CA658799240/MONDO:0011229/014
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.43508052dup , CM000681.2:g.43508052dup GRCh38
NC_000019.9:g.44012204dup , CM000681.1:g.44012204dup GRCh37
NC_000019.8:g.48704044dup NCBI36
NG_008141.1:g.24193dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000292147.7:c.604dup MANE Select ENSP00000292147.1:p.Val202GlyfsTer19
ENST00000292147.6:c.604dup ENSP00000292147.1:p.Val202GlyfsTer19
ENST00000594342.5:c.*167dup ENSP00000469652.1:n.*167dup
ENST00000598330.1:c.*167dup ENSP00000469219.1:n.*167dup
ENST00000600651.5:c.604dup ENSP00000469037.1:p.Val202GlyfsTer19
NM_014297.3:c.604dup NP_055112.2:p.Val202GlyfsTer19
XM_005258687.2:c.523dup XP_005258744.1:p.Val175GlyfsTer19
XM_005258688.2:c.235dup XP_005258745.1:p.Val79GlyfsTer19
XM_011526685.1:c.325dup XP_011524987.1:p.Val109GlyfsTer19
NM_001320867.1:c.571dup NP_001307796.1:p.Val191GlyfsTer19
NM_001320868.1:c.235dup NP_001307797.1:p.Val79GlyfsTer19
NM_001320869.1:c.310dup NP_001307798.1:p.Val104GlyfsTer19
NM_014297.4:c.604dup NP_055112.2:p.Val202GlyfsTer19
XM_005258687.4:c.523dup XP_005258744.1:p.Val175GlyfsTer19
NM_014297.5:c.604dup MANE Select NP_055112.2:p.Val202GlyfsTer19
NM_001320867.2:c.571dup NP_001307796.1:p.Val191GlyfsTer19
NM_001320868.2:c.235dup NP_001307797.1:p.Val79GlyfsTer19
NM_001320869.2:c.310dup NP_001307798.1:p.Val104GlyfsTer19
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