Canonical Allele Identifier: CA2694152751

Gene: ATP7A PGK1

Linked Data

• gnomAD v4: X-78009279-TTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78009281_78009282del , CM000685.2:g.78009281_78009282del	GRCh38
NC_000023.10:g.77264778_77264779del , CM000685.1:g.77264778_77264779del	GRCh37
NC_000023.9:g.77151434_77151435del	NCBI36
NG_013224.2:g.103585_103586del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.1899+18_1899+19del (ATP7A)	ENSP00000343026.6:n.1899+18_1899+19del
ENST00000682742.2:n.2049_2050del (ATP7A)
ENST00000685264.1:c.1869+18_1869+19del (ATP7A)	ENSP00000510136.1:n.1869+18_1869+19del
ENST00000685434.1:n.1921_1922del (ATP7A)
ENST00000686033.1:c.1869+18_1869+19del (ATP7A)	ENSP00000510693.1:n.1869+18_1869+19del
ENST00000686133.1:c.1869+18_1869+19del (ATP7A)	ENSP00000509233.1:n.1869+18_1869+19del
ENST00000686416.1:n.2241_2242del (ATP7A)
ENST00000686480.1:c.1869+18_1869+19del (ATP7A)	ENSP00000508978.1:n.1869+18_1869+19del
ENST00000686515.1:n.2009+18_2009+19del (ATP7A)
ENST00000686543.1:c.1869+18_1869+19del (ATP7A)	ENSP00000509477.1:n.1869+18_1869+19del
ENST00000686688.1:c.1869+18_1869+19del (ATP7A)	ENSP00000509416.1:n.1869+18_1869+19del
ENST00000686999.1:n.2180+18_2180+19del (ATP7A)
ENST00000687086.1:c.1869+18_1869+19del (ATP7A)	ENSP00000509566.1:n.1869+18_1869+19del
ENST00000687628.1:n.1988_1989del (ATP7A)
ENST00000688746.1:n.2021+18_2021+19del (ATP7A)
ENST00000689530.1:c.1869+18_1869+19del (ATP7A)	ENSP00000509707.1:n.1869+18_1869+19del
ENST00000689541.1:n.2196_2197del (ATP7A)
ENST00000689649.1:c.1869+18_1869+19del (ATP7A)	ENSP00000509277.1:n.1869+18_1869+19del
ENST00000689767.1:c.1962+18_1962+19del (ATP7A)	ENSP00000509406.1:n.1962+18_1962+19del
ENST00000689872.1:c.1869+18_1869+19del (ATP7A)	ENSP00000509373.1:n.1869+18_1869+19del
ENST00000692110.1:c.1785+18_1785+19del (ATP7A)	ENSP00000509366.1:n.1785+18_1785+19del
ENST00000692908.1:c.1869+18_1869+19del (ATP7A)	ENSP00000508627.1:n.1869+18_1869+19del
ENST00000693387.1:c.*1816_*1817del (ATP7A)	ENSP00000508732.1:n.*1816_*1817del
ENST00000693398.1:c.1869+18_1869+19del (ATP7A)	ENSP00000510089.1:n.1869+18_1869+19del
ENST00000341514.11:c.1869+18_1869+19del (ATP7A) MANE Select	ENSP00000345728.6:n.1869+18_1869+19del
ENST00000644362.1:c.-20+98446_-20+98447del (PGK1)	ENSP00000496140.1:n.-20+98446_-20+98447del
ENST00000645094.1:c.*1783+18_*1783+19del (ATP7A)	ENSP00000493605.1:n.*1783+18_*1783+19del
ENST00000341514.10:c.1869+18_1869+19del (ATP7A)	ENSP00000345728.6:n.1869+18_1869+19del
ENST00000343533.9:c.1869+18_1869+19del (ATP7A)	ENSP00000343026.5:n.1869+18_1869+19del
ENST00000350425.5:c.*1042+18_*1042+19del (ATP7A)	ENSP00000343678.5:n.*1042+18_*1042+19del
NM_000052.6:c.1869+18_1869+19del (ATP7A)	NP_000043.4:n.1869+18_1869+19del
NM_001282224.1:c.1869+18_1869+19del (ATP7A)	NP_001269153.1:n.1869+18_1869+19del
NR_104109.1:n.322-22119_322-22118del (ATP7A)
NM_000052.7:c.1869+18_1869+19del (ATP7A) MANE Select	NP_000043.4:n.1869+18_1869+19del
NR_104109.2:n.285-22119_285-22118del (ATP7A)
NM_001282224.2:c.1869+18_1869+19del (ATP7A)	NP_001269153.1:n.1869+18_1869+19del