Canonical Allele Identifier: CA2337538949

Gene: ETHE1 ZNF575

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43526148_43526152delinsAAGTT , CM000681.2:g.43526148_43526152delinsAAGTT	GRCh38
NC_000019.9:g.44030300_44030304delinsAAGTT , CM000681.1:g.44030300_44030304delinsAAGTT	GRCh37
NC_000019.8:g.48722140_48722144delinsAAGTT	NCBI36
NG_008141.1:g.6093_6097delinsAACTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292147.7:c.375+49_375+53delinsAACTT (ETHE1) MANE Select	ENSP00000292147.1:n.375+49_375+53delinsAACTT
ENST00000292147.6:c.375+49_375+53delinsAACTT (ETHE1)	ENSP00000292147.1:n.375+49_375+53delinsAACTT
ENST00000458714.2:c.-156_-152delinsAAGTT (ZNF575)	ENSP00000413956.2:n.-156_-152delinsAAGTT
ENST00000594342.5:c.226+363_226+367delinsAACTT (ETHE1)	ENSP00000469652.1:n.226+363_226+367delinsAACTT
ENST00000598330.1:c.226+363_226+367delinsAACTT (ETHE1)	ENSP00000469219.1:n.226+363_226+367delinsAACTT
ENST00000600651.5:c.375+49_375+53delinsAACTT (ETHE1)	ENSP00000469037.1:n.375+49_375+53delinsAACTT
ENST00000602138.1:c.*379+49_*379+53delinsAACTT (ETHE1)	ENSP00000468964.1:n.*379+49_*379+53delinsAACTT
NM_014297.3:c.375+49_375+53delinsAACTT (ETHE1)	NP_055112.2:n.375+49_375+53delinsAACTT
XM_005258687.2:c.294+49_294+53delinsAACTT (ETHE1)	XP_005258744.1:n.294+49_294+53delinsAACTT
XM_005258688.2:c.6+363_6+367delinsAACTT (ETHE1)	XP_005258745.1:n.6+363_6+367delinsAACTT
XM_011526685.1:c.226+363_226+367delinsAACTT (ETHE1)	XP_011524987.1:n.226+363_226+367delinsAACTT
NM_001320867.1:c.342+49_342+53delinsAACTT (ETHE1)	NP_001307796.1:n.342+49_342+53delinsAACTT
NM_001320868.1:c.6+363_6+367delinsAACTT (ETHE1)	NP_001307797.1:n.6+363_6+367delinsAACTT
NM_001320869.1:c.81+945_81+949delinsAACTT (ETHE1)	NP_001307798.1:n.81+945_81+949delinsAACTT
NM_014297.4:c.375+49_375+53delinsAACTT (ETHE1)	NP_055112.2:n.375+49_375+53delinsAACTT
XM_005258687.4:c.294+49_294+53delinsAACTT (ETHE1)	XP_005258744.1:n.294+49_294+53delinsAACTT
NM_014297.5:c.375+49_375+53delinsAACTT (ETHE1) MANE Select	NP_055112.2:n.375+49_375+53delinsAACTT
NM_001320867.2:c.342+49_342+53delinsAACTT (ETHE1)	NP_001307796.1:n.342+49_342+53delinsAACTT
NM_001320868.2:c.6+363_6+367delinsAACTT (ETHE1)	NP_001307797.1:n.6+363_6+367delinsAACTT
NM_001320869.2:c.81+945_81+949delinsAACTT (ETHE1)	NP_001307798.1:n.81+945_81+949delinsAACTT