Canonical Allele Identifier: CA1134507583

Gene: ATP7A PGK1

Linked Data

• gnomAD v3: X-78009017-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
• gnomAD v4: X-78009017-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78009035_78009036insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000685.2:g.78009035_78009036insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000023.10:g.77264532_77264533insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000685.1:g.77264532_77264533insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000023.9:g.77151188_77151189insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NCBI36
NG_013224.2:g.103339_103340insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.1738-67_1738-66insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (ATP7A)	ENSP00000343026.6:n.1738-67_1738-66insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000682742.2:n.1870-67_1870-66insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (ATP7A)
ENST00000685264.1:c.1708-67_1708-66insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (ATP7A)	ENSP00000510136.1:n.1708-67_1708-66insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000685434.1:n.1742-67_1742-66insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (ATP7A)
ENST00000686033.1:c.1708-67_1708-66insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (ATP7A)	ENSP00000510693.1:n.1708-67_1708-66insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000686133.1:c.1708-67_1708-66insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (ATP7A)	ENSP00000509233.1:n.1708-67_1708-66insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000686416.1:n.2062-67_2062-66insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (ATP7A)
ENST00000686480.1:c.1708-67_1708-66insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (ATP7A)	ENSP00000508978.1:n.1708-67_1708-66insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000686515.1:n.1848-67_1848-66insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (ATP7A)
ENST00000686543.1:c.1708-67_1708-66insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (ATP7A)	ENSP00000509477.1:n.1708-67_1708-66insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000686688.1:c.1708-67_1708-66insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (ATP7A)	ENSP00000509416.1:n.1708-67_1708-66insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000686999.1:n.2019-67_2019-66insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (ATP7A)
ENST00000687086.1:c.1708-67_1708-66insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (ATP7A)	ENSP00000509566.1:n.1708-67_1708-66insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000687628.1:n.1809-67_1809-66insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (ATP7A)
ENST00000688746.1:n.1860-67_1860-66insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (ATP7A)
ENST00000689530.1:c.1708-67_1708-66insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (ATP7A)	ENSP00000509707.1:n.1708-67_1708-66insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000689541.1:n.2017-67_2017-66insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (ATP7A)
ENST00000689649.1:c.1708-67_1708-66insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (ATP7A)	ENSP00000509277.1:n.1708-67_1708-66insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000689767.1:c.1801-67_1801-66insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (ATP7A)	ENSP00000509406.1:n.1801-67_1801-66insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000689872.1:c.1708-67_1708-66insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (ATP7A)	ENSP00000509373.1:n.1708-67_1708-66insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000692110.1:c.1624-67_1624-66insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (ATP7A)	ENSP00000509366.1:n.1624-67_1624-66insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000692908.1:c.1708-67_1708-66insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (ATP7A)	ENSP00000508627.1:n.1708-67_1708-66insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000693387.1:c.*1637-67_*1637-66insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (ATP7A)	ENSP00000508732.1:n.*1637-67_*1637-66insAAAAAAAAAAAAAAAAAAAAA...
ENST00000693398.1:c.1708-67_1708-66insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (ATP7A)	ENSP00000510089.1:n.1708-67_1708-66insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000341514.11:c.1708-67_1708-66insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (ATP7A) MANE Select	ENSP00000345728.6:n.1708-67_1708-66insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000644362.1:c.-20+98200_-20+98201insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (PGK1)	ENSP00000496140.1:n.-20+98200_-20+98201insAAAAAAAAAAAAAAAAAAA...
ENST00000645094.1:c.*1622-67_*1622-66insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (ATP7A)	ENSP00000493605.1:n.*1622-67_*1622-66insAAAAAAAAAAAAAAAAAAAAA...
ENST00000341514.10:c.1708-67_1708-66insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (ATP7A)	ENSP00000345728.6:n.1708-67_1708-66insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000343533.9:c.1708-67_1708-66insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (ATP7A)	ENSP00000343026.5:n.1708-67_1708-66insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000350425.5:c.*881-67_*881-66insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (ATP7A)	ENSP00000343678.5:n.*881-67_*881-66insAAAAAAAAAAAAAAAAAAAAAAA...
NM_000052.6:c.1708-67_1708-66insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (ATP7A)	NP_000043.4:n.1708-67_1708-66insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_001282224.1:c.1708-67_1708-66insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (ATP7A)	NP_001269153.1:n.1708-67_1708-66insAAAAAAAAAAAAAAAAAAAAAAAAAA...
NR_104109.1:n.322-22365_322-22364insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (ATP7A)
NM_000052.7:c.1708-67_1708-66insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (ATP7A) MANE Select	NP_000043.4:n.1708-67_1708-66insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
NR_104109.2:n.285-22365_285-22364insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (ATP7A)
NM_001282224.2:c.1708-67_1708-66insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (ATP7A)	NP_001269153.1:n.1708-67_1708-66insAAAAAAAAAAAAAAAAAAAAAAAAAA...