Canonical Allele Identifier: CA882557723

Gene: ETHE1 ZNF575

Linked Data

• dbSNP Id: rs1186301956
• MyVariant Identifiers: chr19:g.44030367_44030370del (hg19) ; chr19:g.43526215_43526218del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43526218_43526221del , CM000681.2:g.43526218_43526221del	GRCh38
NC_000019.9:g.44030370_44030373del , CM000681.1:g.44030370_44030373del	GRCh37
NC_000019.8:g.48722210_48722213del	NCBI36
NG_008141.1:g.6027_6030del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292147.7:c.358_361del (ETHE1) MANE Select	ENSP00000292147.1:p.Ile120AlafsTer24
ENST00000292147.6:c.358_361del (ETHE1)	ENSP00000292147.1:p.Ile120AlafsTer24
ENST00000458714.2:c.-86_-83del (ZNF575)	ENSP00000413956.2:n.-86_-83del
ENST00000594342.5:c.226+297_226+300del (ETHE1)	ENSP00000469652.1:n.226+297_226+300del
ENST00000595115.1:n.576_579del (ETHE1)
ENST00000598330.1:c.226+297_226+300del (ETHE1)	ENSP00000469219.1:n.226+297_226+300del
ENST00000600651.5:c.358_361del (ETHE1)	ENSP00000469037.1:p.Ile120AlafsTer24
ENST00000602138.1:c.*362_*365del (ETHE1)	ENSP00000468964.1:n.*362_*365del
NM_014297.3:c.358_361del (ETHE1)	NP_055112.2:p.Ile120AlafsTer24
XM_005258687.2:c.277_280del (ETHE1)	XP_005258744.1:p.Ile93AlafsTer24
XM_005258688.2:c.6+297_6+300del (ETHE1)	XP_005258745.1:n.6+297_6+300del
XM_011526685.1:c.226+297_226+300del (ETHE1)	XP_011524987.1:n.226+297_226+300del
NM_001320867.1:c.325_328del (ETHE1)	NP_001307796.1:p.Ile109AlafsTer24
NM_001320868.1:c.6+297_6+300del (ETHE1)	NP_001307797.1:n.6+297_6+300del
NM_001320869.1:c.81+879_81+882del (ETHE1)	NP_001307798.1:n.81+879_81+882del
NM_014297.4:c.358_361del (ETHE1)	NP_055112.2:p.Ile120AlafsTer24
XM_005258687.4:c.277_280del (ETHE1)	XP_005258744.1:p.Ile93AlafsTer24
NM_014297.5:c.358_361del (ETHE1) MANE Select	NP_055112.2:p.Ile120AlafsTer24
NM_001320867.2:c.325_328del (ETHE1)	NP_001307796.1:p.Ile109AlafsTer24
NM_001320868.2:c.6+297_6+300del (ETHE1)	NP_001307797.1:n.6+297_6+300del
NM_001320869.2:c.81+879_81+882del (ETHE1)	NP_001307798.1:n.81+879_81+882del