Canonical Allele Identifier: CA2585521440

Gene: ETHE1 ZNF575

Linked Data

• gnomAD v4: 19-43526469-G-GCAGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43526476_43526480dup , CM000681.2:g.43526476_43526480dup	GRCh38
NC_000019.9:g.44030628_44030632dup , CM000681.1:g.44030628_44030632dup	GRCh37
NC_000019.8:g.48722468_48722472dup	NCBI36
NG_008141.1:g.5771_5775dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292147.7:c.226+41_226+45dup (ETHE1) MANE Select	ENSP00000292147.1:n.226+41_226+45dup
ENST00000292147.6:c.226+41_226+45dup (ETHE1)	ENSP00000292147.1:n.226+41_226+45dup
ENST00000458714.2:c.-16_-12dup (ZNF575)	ENSP00000413956.2:n.-16_-12dup
ENST00000594342.5:c.226+41_226+45dup (ETHE1)	ENSP00000469652.1:n.226+41_226+45dup
ENST00000595115.1:n.320_324dup (ETHE1)
ENST00000598330.1:c.226+41_226+45dup (ETHE1)	ENSP00000469219.1:n.226+41_226+45dup
ENST00000600651.5:c.226+41_226+45dup (ETHE1)	ENSP00000469037.1:n.226+41_226+45dup
ENST00000602138.1:c.*230+41_*230+45dup (ETHE1)	ENSP00000468964.1:n.*230+41_*230+45dup
NM_014297.3:c.226+41_226+45dup (ETHE1)	NP_055112.2:n.226+41_226+45dup
XM_005258687.2:c.145+41_145+45dup (ETHE1)	XP_005258744.1:n.145+41_145+45dup
XM_005258688.2:c.6+41_6+45dup (ETHE1)	XP_005258745.1:n.6+41_6+45dup
XM_011526685.1:c.226+41_226+45dup (ETHE1)	XP_011524987.1:n.226+41_226+45dup
NM_001320867.1:c.226+41_226+45dup (ETHE1)	NP_001307796.1:n.226+41_226+45dup
NM_001320868.1:c.6+41_6+45dup (ETHE1)	NP_001307797.1:n.6+41_6+45dup
NM_001320869.1:c.81+623_81+627dup (ETHE1)	NP_001307798.1:n.81+623_81+627dup
NM_014297.4:c.226+41_226+45dup (ETHE1)	NP_055112.2:n.226+41_226+45dup
XM_005258687.4:c.145+41_145+45dup (ETHE1)	XP_005258744.1:n.145+41_145+45dup
NM_014297.5:c.226+41_226+45dup (ETHE1) MANE Select	NP_055112.2:n.226+41_226+45dup
NM_001320867.2:c.226+41_226+45dup (ETHE1)	NP_001307796.1:n.226+41_226+45dup
NM_001320868.2:c.6+41_6+45dup (ETHE1)	NP_001307797.1:n.6+41_6+45dup
NM_001320869.2:c.81+623_81+627dup (ETHE1)	NP_001307798.1:n.81+623_81+627dup