Canonical Allele Identifier: CA2439103673

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78021079_78021083delinsTGTAA , CM000685.2:g.78021079_78021083delinsTGTAA	GRCh38
NC_000023.10:g.77276576_77276580delinsTGTAA , CM000685.1:g.77276576_77276580delinsTGTAA	GRCh37
NC_000023.9:g.77163232_77163236delinsTGTAA	NCBI36
NG_013224.2:g.115383_115387delinsTGTAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000343533.10:c.2946_2946+4delinsTGTAA (ATP7A)
ENST00000682475.1:n.1333_1333+4delinsTGTAA (ATP7A)
ENST00000685033.1:c.375+681_375+685delinsTGTAA (ATP7A)	ENSP00000509269.1:n.375+681_375+685delins...
ENST00000685264.1:c.2916_2916+4delinsTGTAA (ATP7A)
ENST00000686033.1:c.2916_2916+4delinsTGTAA (ATP7A)
ENST00000686133.1:c.2916_2916+4delinsTGTAA (ATP7A)
ENST00000686255.1:n.1947_1947+4delinsTGTAA (ATP7A)
ENST00000686543.1:c.2682_2682+4delinsTGTAA (ATP7A)
ENST00000687086.1:c.2916_2916+4delinsTGTAA (ATP7A)
ENST00000689514.1:n.958_958+4delinsTGTAA (ATP7A)
ENST00000689767.1:c.3009_3009+4delinsTGTAA (ATP7A)
ENST00000692908.1:c.2682_2682+4delinsTGTAA (ATP7A)
ENST00000341514.11:c.2916_2916+4delinsTGTAA (ATP7A)
ENST00000644362.1:c.-19-88788_-19-88784delinsTGTAA (PGK1)	ENSP00000496140.1:n.-19-88788_-19-88784de...
ENST00000645094.1:c.*2830_*2830+4delinsTGTAA (ATP7A)
ENST00000341514.10:c.2916_2916+4delinsTGTAA (ATP7A)
ENST00000343533.9:c.2682_2682+4delinsTGTAA (ATP7A)
ENST00000350425.5:c.*2089_*2089+4delinsTGTAA (ATP7A)
NM_000052.6:c.2916_2916+4delinsTGTAA (ATP7A)
NM_001282224.1:c.2682_2682+4delinsTGTAA (ATP7A)
NR_104109.1:n.322-10321_322-10317delinsTGTAA (ATP7A)
NM_000052.7:c.2916_2916+4delinsTGTAA (ATP7A)
NR_104109.2:n.285-10321_285-10317delinsTGTAA (ATP7A)
NM_001282224.2:c.2682_2682+4delinsTGTAA (ATP7A)