Canonical Allele Identifier: CA2337538430

Gene: ETHE1 ZNF575

Linked Data

• dbSNP Id: rs1972245125

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43526313dup , CM000681.2:g.43526313dup	GRCh38
NC_000019.9:g.44030465dup , CM000681.1:g.44030465dup	GRCh37
NC_000019.8:g.48722305dup	NCBI36
NG_008141.1:g.5932dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292147.7:c.263dup (ETHE1) MANE Select	ENSP00000292147.1:p.Leu90AlafsTer17
ENST00000292147.6:c.263dup (ETHE1)	ENSP00000292147.1:p.Leu90AlafsTer17
ENST00000458714.2:c.-66+75dup (ZNF575)	ENSP00000413956.2:n.-66+75dup
ENST00000594342.5:c.226+202dup (ETHE1)	ENSP00000469652.1:n.226+202dup
ENST00000595115.1:n.481dup (ETHE1)
ENST00000598330.1:c.226+202dup (ETHE1)	ENSP00000469219.1:n.226+202dup
ENST00000600651.5:c.263dup (ETHE1)	ENSP00000469037.1:p.Leu90AlafsTer17
ENST00000602138.1:c.*267dup (ETHE1)	ENSP00000468964.1:n.*267dup
NM_014297.3:c.263dup (ETHE1)	NP_055112.2:p.Leu90AlafsTer17
XM_005258687.2:c.182dup (ETHE1)	XP_005258744.1:p.Leu63AlafsTer17
XM_005258688.2:c.6+202dup (ETHE1)	XP_005258745.1:n.6+202dup
XM_011526685.1:c.226+202dup (ETHE1)	XP_011524987.1:n.226+202dup
NM_001320867.1:c.230dup (ETHE1)	NP_001307796.1:p.Leu79AlafsTer17
NM_001320868.1:c.6+202dup (ETHE1)	NP_001307797.1:n.6+202dup
NM_001320869.1:c.81+784dup (ETHE1)	NP_001307798.1:n.81+784dup
NM_014297.4:c.263dup (ETHE1)	NP_055112.2:p.Leu90AlafsTer17
XM_005258687.4:c.182dup (ETHE1)	XP_005258744.1:p.Leu63AlafsTer17
NM_014297.5:c.263dup (ETHE1) MANE Select	NP_055112.2:p.Leu90AlafsTer17
NM_001320867.2:c.230dup (ETHE1)	NP_001307796.1:p.Leu79AlafsTer17
NM_001320868.2:c.6+202dup (ETHE1)	NP_001307797.1:n.6+202dup
NM_001320869.2:c.81+784dup (ETHE1)	NP_001307798.1:n.81+784dup