Canonical Allele Identifier: CA2337538925

Gene: ETHE1 ZNF575

Linked Data

• dbSNP Id: rs1972237969
• gnomAD v4: 19-43526096-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43526099dup , CM000681.2:g.43526099dup	GRCh38
NC_000019.9:g.44030251dup , CM000681.1:g.44030251dup	GRCh37
NC_000019.8:g.48722091dup	NCBI36
NG_008141.1:g.6148dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292147.7:c.375+104dup (ETHE1) MANE Select	ENSP00000292147.1:n.375+104dup
ENST00000292147.6:c.375+104dup (ETHE1)	ENSP00000292147.1:n.375+104dup
ENST00000458714.2:c.-205dup (ZNF575)	ENSP00000413956.2:n.-205dup
ENST00000594342.5:c.226+418dup (ETHE1)	ENSP00000469652.1:n.226+418dup
ENST00000598330.1:c.226+418dup (ETHE1)	ENSP00000469219.1:n.226+418dup
ENST00000600651.5:c.375+104dup (ETHE1)	ENSP00000469037.1:n.375+104dup
ENST00000602138.1:c.*379+104dup (ETHE1)	ENSP00000468964.1:n.*379+104dup
NM_014297.3:c.375+104dup (ETHE1)	NP_055112.2:n.375+104dup
XM_005258687.2:c.294+104dup (ETHE1)	XP_005258744.1:n.294+104dup
XM_005258688.2:c.6+418dup (ETHE1)	XP_005258745.1:n.6+418dup
XM_011526685.1:c.226+418dup (ETHE1)	XP_011524987.1:n.226+418dup
NM_001320867.1:c.342+104dup (ETHE1)	NP_001307796.1:n.342+104dup
NM_001320868.1:c.6+418dup (ETHE1)	NP_001307797.1:n.6+418dup
NM_001320869.1:c.81+1000dup (ETHE1)	NP_001307798.1:n.81+1000dup
NM_014297.4:c.375+104dup (ETHE1)	NP_055112.2:n.375+104dup
XM_005258687.4:c.294+104dup (ETHE1)	XP_005258744.1:n.294+104dup
NM_014297.5:c.375+104dup (ETHE1) MANE Select	NP_055112.2:n.375+104dup
NM_001320867.2:c.342+104dup (ETHE1)	NP_001307796.1:n.342+104dup
NM_001320868.2:c.6+418dup (ETHE1)	NP_001307797.1:n.6+418dup
NM_001320869.2:c.81+1000dup (ETHE1)	NP_001307798.1:n.81+1000dup