Canonical Allele Identifier: CA2337538991

Gene: ETHE1 ZNF575

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43526214_43526218delinsCGGAT , CM000681.2:g.43526214_43526218delinsCGGAT	GRCh38
NC_000019.9:g.44030366_44030370delinsCGGAT , CM000681.1:g.44030366_44030370delinsCGGAT	GRCh37
NC_000019.8:g.48722206_48722210delinsCGGAT	NCBI36
NG_008141.1:g.6027_6031delinsATCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292147.7:c.358_362delinsATCCG (ETHE1) MANE Select	ENSP00000292147.1:p.Ile120=
ENST00000292147.6:c.358_362delinsATCCG (ETHE1)	ENSP00000292147.1:p.Ile120=
ENST00000458714.2:c.-90_-86delinsCGGAT (ZNF575)	ENSP00000413956.2:n.-90_-86delinsCGGAT
ENST00000594342.5:c.226+297_226+301delinsATCCG (ETHE1)	ENSP00000469652.1:n.226+297_226+301delinsATCCG
ENST00000595115.1:n.576_580delinsATCCG (ETHE1)
ENST00000598330.1:c.226+297_226+301delinsATCCG (ETHE1)	ENSP00000469219.1:n.226+297_226+301delinsATCCG
ENST00000600651.5:c.358_362delinsATCCG (ETHE1)	ENSP00000469037.1:p.Ile120=
ENST00000602138.1:c.*362_*366delinsATCCG (ETHE1)	ENSP00000468964.1:n.*362_*366delinsATCCG
NM_014297.3:c.358_362delinsATCCG (ETHE1)	NP_055112.2:p.Ile120=
XM_005258687.2:c.277_281delinsATCCG (ETHE1)	XP_005258744.1:p.Ile93=
XM_005258688.2:c.6+297_6+301delinsATCCG (ETHE1)	XP_005258745.1:n.6+297_6+301delinsATCCG
XM_011526685.1:c.226+297_226+301delinsATCCG (ETHE1)	XP_011524987.1:n.226+297_226+301delinsATCCG
NM_001320867.1:c.325_329delinsATCCG (ETHE1)	NP_001307796.1:p.Ile109=
NM_001320868.1:c.6+297_6+301delinsATCCG (ETHE1)	NP_001307797.1:n.6+297_6+301delinsATCCG
NM_001320869.1:c.81+879_81+883delinsATCCG (ETHE1)	NP_001307798.1:n.81+879_81+883delinsATCCG
NM_014297.4:c.358_362delinsATCCG (ETHE1)	NP_055112.2:p.Ile120=
XM_005258687.4:c.277_281delinsATCCG (ETHE1)	XP_005258744.1:p.Ile93=
NM_014297.5:c.358_362delinsATCCG (ETHE1) MANE Select	NP_055112.2:p.Ile120=
NM_001320867.2:c.325_329delinsATCCG (ETHE1)	NP_001307796.1:p.Ile109=
NM_001320868.2:c.6+297_6+301delinsATCCG (ETHE1)	NP_001307797.1:n.6+297_6+301delinsATCCG
NM_001320869.2:c.81+879_81+883delinsATCCG (ETHE1)	NP_001307798.1:n.81+879_81+883delinsATCCG