Canonical Allele Identifier: CA2561213531

Gene: ATP7A PGK1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78012970_78012972del , CM000685.2:g.78012970_78012972del	GRCh38
NC_000023.10:g.77268467_77268469del , CM000685.1:g.77268467_77268469del	GRCh37
NC_000023.9:g.77155123_77155125del	NCBI36
NG_013224.2:g.107274_107276del

Transcript Alleles

HGVS	Amino-acid change
ENST00000343533.10:c.2294_2296del (ATP7A)	ENSP00000343026.6:p.Thr765del
ENST00000682475.1:n.823+1296_823+1298del (ATP7A)
ENST00000685264.1:c.2264_2266del (ATP7A)	ENSP00000510136.1:p.Thr755del
ENST00000686033.1:c.2264_2266del (ATP7A)	ENSP00000510693.1:p.Thr755del
ENST00000686133.1:c.2264_2266del (ATP7A)	ENSP00000509233.1:p.Thr755del
ENST00000686255.1:n.1295_1297del (ATP7A)
ENST00000686480.1:c.2172+1296_2172+1298del (ATP7A)	ENSP00000508978.1:n.2172+1296_2172+1298del
ENST00000686543.1:c.2172+1296_2172+1298del (ATP7A)	ENSP00000509477.1:n.2172+1296_2172+1298del
ENST00000686688.1:c.2264_2266del (ATP7A)	ENSP00000509416.1:p.Thr755del
ENST00000687086.1:c.2264_2266del (ATP7A)	ENSP00000509566.1:p.Thr755del
ENST00000688746.1:n.3620_3622del (ATP7A)
ENST00000689514.1:n.306_308del (ATP7A)
ENST00000689530.1:c.2264_2266del (ATP7A)	ENSP00000509707.1:p.Thr755del
ENST00000689649.1:c.2264_2266del (ATP7A)	ENSP00000509277.1:p.Thr755del
ENST00000689767.1:c.2357_2359del (ATP7A)	ENSP00000509406.1:p.Thr786del
ENST00000689872.1:c.*213_*215del (ATP7A)	ENSP00000509373.1:n.*213_*215del
ENST00000692908.1:c.2172+1296_2172+1298del (ATP7A)	ENSP00000508627.1:n.2172+1296_2172+1298del
ENST00000693398.1:c.2264_2266del (ATP7A)	ENSP00000510089.1:p.Thr755del
ENST00000341514.11:c.2264_2266del (ATP7A) MANE Select	ENSP00000345728.6:p.Thr755del
ENST00000644362.1:c.-19-96897_-19-96895del (PGK1)	ENSP00000496140.1:n.-19-96897_-19-96895del
ENST00000645094.1:c.*2178_*2180del (ATP7A)	ENSP00000493605.1:n.*2178_*2180del
ENST00000341514.10:c.2264_2266del (ATP7A)	ENSP00000345728.6:p.Thr755del
ENST00000343533.9:c.2172+1296_2172+1298del (ATP7A)	ENSP00000343026.5:n.2172+1296_2172+1298del
ENST00000350425.5:c.*1437_*1439del (ATP7A)	ENSP00000343678.5:n.*1437_*1439del
NM_000052.6:c.2264_2266del (ATP7A)	NP_000043.4:p.Thr755del
NM_001282224.1:c.2172+1296_2172+1298del (ATP7A)	NP_001269153.1:n.2172+1296_2172+1298del
NR_104109.1:n.322-18430_322-18428del (ATP7A)
NM_000052.7:c.2264_2266del (ATP7A) MANE Select	NP_000043.4:p.Thr755del
NR_104109.2:n.285-18430_285-18428del (ATP7A)
NM_001282224.2:c.2172+1296_2172+1298del (ATP7A)	NP_001269153.1:n.2172+1296_2172+1298del