Canonical Allele Identifier: CA1134508508

Gene: ATP7A PGK1

Linked Data

• gnomAD v3: X-78011322-G-GTTTTTT
• gnomAD v4: X-78011322-G-GTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78011327_78011328insTTTTTT , CM000685.2:g.78011327_78011328insTTTTTT	GRCh38
NC_000023.10:g.77266824_77266825insTTTTTT , CM000685.1:g.77266824_77266825insTTTTTT	GRCh37
NC_000023.9:g.77153480_77153481insTTTTTT	NCBI36
NG_013224.2:g.105631_105632insTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.1976+75_1976+76insTTTTTT (ATP7A)	ENSP00000343026.6:n.1976+75_1976+76insTTTTTT
ENST00000682475.1:n.476_477insTTTTTT (ATP7A)
ENST00000685264.1:c.1946+75_1946+76insTTTTTT (ATP7A)	ENSP00000510136.1:n.1946+75_1946+76insTTTTTT
ENST00000686033.1:c.1946+75_1946+76insTTTTTT (ATP7A)	ENSP00000510693.1:n.1946+75_1946+76insTTTTTT
ENST00000686133.1:c.1946+75_1946+76insTTTTTT (ATP7A)	ENSP00000509233.1:n.1946+75_1946+76insTTTTTT
ENST00000686255.1:n.856_857insTTTTTT (ATP7A)
ENST00000686480.1:c.1946+75_1946+76insTTTTTT (ATP7A)	ENSP00000508978.1:n.1946+75_1946+76insTTTTTT
ENST00000686515.1:n.2086+75_2086+76insTTTTTT (ATP7A)
ENST00000686543.1:c.1946+75_1946+76insTTTTTT (ATP7A)	ENSP00000509477.1:n.1946+75_1946+76insTTTTTT
ENST00000686688.1:c.1946+75_1946+76insTTTTTT (ATP7A)	ENSP00000509416.1:n.1946+75_1946+76insTTTTTT
ENST00000686999.1:n.2257+75_2257+76insTTTTTT (ATP7A)
ENST00000687086.1:c.1946+75_1946+76insTTTTTT (ATP7A)	ENSP00000509566.1:n.1946+75_1946+76insTTTTTT
ENST00000687628.1:n.4034_4035insTTTTTT (ATP7A)
ENST00000688746.1:n.2098+75_2098+76insTTTTTT (ATP7A)
ENST00000689530.1:c.1946+75_1946+76insTTTTTT (ATP7A)	ENSP00000509707.1:n.1946+75_1946+76insTTTTTT
ENST00000689649.1:c.1946+75_1946+76insTTTTTT (ATP7A)	ENSP00000509277.1:n.1946+75_1946+76insTTTTTT
ENST00000689767.1:c.2039+75_2039+76insTTTTTT (ATP7A)	ENSP00000509406.1:n.2039+75_2039+76insTTTTTT
ENST00000689872.1:c.1870-122_1870-121insTTTTTT (ATP7A)	ENSP00000509373.1:n.1870-122_1870-121insTTTTTT
ENST00000692110.1:c.1862+75_1862+76insTTTTTT (ATP7A)	ENSP00000509366.1:n.1862+75_1862+76insTTTTTT
ENST00000692908.1:c.1946+75_1946+76insTTTTTT (ATP7A)	ENSP00000508627.1:n.1946+75_1946+76insTTTTTT
ENST00000693398.1:c.1946+75_1946+76insTTTTTT (ATP7A)	ENSP00000510089.1:n.1946+75_1946+76insTTTTTT
ENST00000341514.11:c.1946+75_1946+76insTTTTTT (ATP7A) MANE Select	ENSP00000345728.6:n.1946+75_1946+76insTTTTTT
ENST00000644362.1:c.-19-98540_-19-98539insTTTTTT (PGK1)	ENSP00000496140.1:n.-19-98540_-19-98539insTTTTTT
ENST00000645094.1:c.*1860+75_*1860+76insTTTTTT (ATP7A)	ENSP00000493605.1:n.*1860+75_*1860+76insTTTTTT
ENST00000341514.10:c.1946+75_1946+76insTTTTTT (ATP7A)	ENSP00000345728.6:n.1946+75_1946+76insTTTTTT
ENST00000343533.9:c.1946+75_1946+76insTTTTTT (ATP7A)	ENSP00000343026.5:n.1946+75_1946+76insTTTTTT
ENST00000350425.5:c.*1119+75_*1119+76insTTTTTT (ATP7A)	ENSP00000343678.5:n.*1119+75_*1119+76insTTTTTT
NM_000052.6:c.1946+75_1946+76insTTTTTT (ATP7A)	NP_000043.4:n.1946+75_1946+76insTTTTTT
NM_001282224.1:c.1946+75_1946+76insTTTTTT (ATP7A)	NP_001269153.1:n.1946+75_1946+76insTTTTTT
NR_104109.1:n.322-20073_322-20072insTTTTTT (ATP7A)
NM_000052.7:c.1946+75_1946+76insTTTTTT (ATP7A) MANE Select	NP_000043.4:n.1946+75_1946+76insTTTTTT
NR_104109.2:n.285-20073_285-20072insTTTTTT (ATP7A)
NM_001282224.2:c.1946+75_1946+76insTTTTTT (ATP7A)	NP_001269153.1:n.1946+75_1946+76insTTTTTT