Canonical Allele Identifier: CA2738743528

Gene: ATP7A PGK1

Linked Data

• dbSNP Id: rs2149107175

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78033667del , CM000685.2:g.78033667del	GRCh38
NC_000023.10:g.77289165del , CM000685.1:g.77289165del	GRCh37
NC_000023.9:g.77175821del	NCBI36
NG_013224.2:g.127971del

Transcript Alleles

HGVS	Amino-acid change
ENST00000343533.10:c.3387del (ATP7A)	ENSP00000343026.6:p.Ser1130AlafsTer18
ENST00000682475.1:n.1774del (ATP7A)
ENST00000685033.1:c.621del (ATP7A)	ENSP00000509269.1:p.Ser208AlafsTer18
ENST00000685264.1:c.3357del (ATP7A)	ENSP00000510136.1:p.Ser1120AlafsTer18
ENST00000686033.1:c.3162del (ATP7A)	ENSP00000510693.1:p.Ser1055AlafsTer18
ENST00000686133.1:c.3357del (ATP7A)	ENSP00000509233.1:p.Ser1120AlafsTer18
ENST00000686255.1:n.2388del (ATP7A)
ENST00000686543.1:c.3123del (ATP7A)	ENSP00000509477.1:p.Ser1042AlafsTer18
ENST00000687086.1:c.3357del (ATP7A)	ENSP00000509566.1:p.Ser1120AlafsTer18
ENST00000689514.1:n.1399del (ATP7A)
ENST00000689767.1:c.3450del (ATP7A)	ENSP00000509406.1:p.Ser1151AlafsTer18
ENST00000692908.1:c.3123del (ATP7A)	ENSP00000508627.1:p.Ser1042AlafsTer18
ENST00000341514.11:c.3357del (ATP7A) MANE Select	ENSP00000345728.6:p.Ser1120AlafsTer18
ENST00000644362.1:c.-19-76200del (PGK1)	ENSP00000496140.1:n.-19-76200del
ENST00000645094.1:c.*3271del (ATP7A)	ENSP00000493605.1:n.*3271del
ENST00000341514.10:c.3357del (ATP7A)	ENSP00000345728.6:p.Ser1120AlafsTer18
ENST00000343533.9:c.3123del (ATP7A)	ENSP00000343026.5:p.Ser1042AlafsTer18
ENST00000350425.5:c.*2530del (ATP7A)	ENSP00000343678.5:n.*2530del
NM_000052.6:c.3357del (ATP7A)	NP_000043.4:p.Ser1120AlafsTer18
NM_001282224.1:c.3123del (ATP7A)	NP_001269153.1:p.Ser1042AlafsTer18
NR_104109.1:n.567del (ATP7A)
NM_000052.7:c.3357del (ATP7A) MANE Select	NP_000043.4:p.Ser1120AlafsTer18
NR_104109.2:n.530del (ATP7A)
NM_001282224.2:c.3123del (ATP7A)	NP_001269153.1:p.Ser1042AlafsTer18