Canonical Allele Identifier: CA642476771

Gene: ATP7A PGK1

Linked Data

• dbSNP Id: rs1557234054
• gnomAD v2: X-77264513-T-TA
• gnomAD v3: X-78009016-T-TA
• gnomAD v4: X-78009016-T-TA
• MyVariant Identifiers: chrX:g.77264513_77264514insA (hg19) ; chrX:g.78009016_78009017insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78009016_78009017insA , CM000685.2:g.78009016_78009017insA	GRCh38
NC_000023.10:g.77264513_77264514insA , CM000685.1:g.77264513_77264514insA	GRCh37
NC_000023.9:g.77151169_77151170insA	NCBI36
NG_013224.2:g.103320_103321insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343533.10:c.1738-86_1738-85insA (ATP7A)	ENSP00000343026.6:n.1738-86_1738-85insA
ENST00000682742.2:n.1870-86_1870-85insA (ATP7A)
ENST00000685264.1:c.1708-86_1708-85insA (ATP7A)	ENSP00000510136.1:n.1708-86_1708-85insA
ENST00000685434.1:n.1742-86_1742-85insA (ATP7A)
ENST00000686033.1:c.1708-86_1708-85insA (ATP7A)	ENSP00000510693.1:n.1708-86_1708-85insA
ENST00000686133.1:c.1708-86_1708-85insA (ATP7A)	ENSP00000509233.1:n.1708-86_1708-85insA
ENST00000686416.1:n.2062-86_2062-85insA (ATP7A)
ENST00000686480.1:c.1708-86_1708-85insA (ATP7A)	ENSP00000508978.1:n.1708-86_1708-85insA
ENST00000686515.1:n.1848-86_1848-85insA (ATP7A)
ENST00000686543.1:c.1708-86_1708-85insA (ATP7A)	ENSP00000509477.1:n.1708-86_1708-85insA
ENST00000686688.1:c.1708-86_1708-85insA (ATP7A)	ENSP00000509416.1:n.1708-86_1708-85insA
ENST00000686999.1:n.2019-86_2019-85insA (ATP7A)
ENST00000687086.1:c.1708-86_1708-85insA (ATP7A)	ENSP00000509566.1:n.1708-86_1708-85insA
ENST00000687628.1:n.1809-86_1809-85insA (ATP7A)
ENST00000688746.1:n.1860-86_1860-85insA (ATP7A)
ENST00000689530.1:c.1708-86_1708-85insA (ATP7A)	ENSP00000509707.1:n.1708-86_1708-85insA
ENST00000689541.1:n.2017-86_2017-85insA (ATP7A)
ENST00000689649.1:c.1708-86_1708-85insA (ATP7A)	ENSP00000509277.1:n.1708-86_1708-85insA
ENST00000689767.1:c.1801-86_1801-85insA (ATP7A)	ENSP00000509406.1:n.1801-86_1801-85insA
ENST00000689872.1:c.1708-86_1708-85insA (ATP7A)	ENSP00000509373.1:n.1708-86_1708-85insA
ENST00000692110.1:c.1624-86_1624-85insA (ATP7A)	ENSP00000509366.1:n.1624-86_1624-85insA
ENST00000692908.1:c.1708-86_1708-85insA (ATP7A)	ENSP00000508627.1:n.1708-86_1708-85insA
ENST00000693387.1:c.*1637-86_*1637-85insA (ATP7A)	ENSP00000508732.1:n.*1637-86_*1637-85insA
ENST00000693398.1:c.1708-86_1708-85insA (ATP7A)	ENSP00000510089.1:n.1708-86_1708-85insA
ENST00000341514.11:c.1708-86_1708-85insA (ATP7A) MANE Select	ENSP00000345728.6:n.1708-86_1708-85insA
ENST00000644362.1:c.-20+98181_-20+98182insA (PGK1)	ENSP00000496140.1:n.-20+98181_-20+98182insA
ENST00000645094.1:c.*1622-86_*1622-85insA (ATP7A)	ENSP00000493605.1:n.*1622-86_*1622-85insA
ENST00000341514.10:c.1708-86_1708-85insA (ATP7A)	ENSP00000345728.6:n.1708-86_1708-85insA
ENST00000343533.9:c.1708-86_1708-85insA (ATP7A)	ENSP00000343026.5:n.1708-86_1708-85insA
ENST00000350425.5:c.*881-86_*881-85insA (ATP7A)	ENSP00000343678.5:n.*881-86_*881-85insA
NM_000052.6:c.1708-86_1708-85insA (ATP7A)	NP_000043.4:n.1708-86_1708-85insA
NM_001282224.1:c.1708-86_1708-85insA (ATP7A)	NP_001269153.1:n.1708-86_1708-85insA
NR_104109.1:n.322-22384_322-22383insA (ATP7A)
NM_000052.7:c.1708-86_1708-85insA (ATP7A) MANE Select	NP_000043.4:n.1708-86_1708-85insA
NR_104109.2:n.285-22384_285-22383insA (ATP7A)
NM_001282224.2:c.1708-86_1708-85insA (ATP7A)	NP_001269153.1:n.1708-86_1708-85insA