Canonical Allele Identifier: CA277235

Linked Data

ClinVar Variation Id: 210437
ClinVar RCV Id: RCV000193969
dbSNP Id: rs797045364

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78021082_78021085del , CM000685.2:g.78021082_78021085del GRCh38
NC_000023.10:g.77276579_77276582del , CM000685.1:g.77276579_77276582del GRCh37
NC_000023.9:g.77163235_77163238del NCBI36
NG_013224.2:g.115386_115389del

Transcript Alleles

HGVS Amino-acid change
ENST00000343533.10:c.2946+3_2946+6del (ATP7A) ENSP00000343026.6:n.2946+3_2946+6del
ENST00000682475.1:n.1333+3_1333+6del (ATP7A)
ENST00000685033.1:c.375+684_375+687del (ATP7A) ENSP00000509269.1:n.375+684_375+687del
ENST00000685264.1:c.2916+3_2916+6del (ATP7A) ENSP00000510136.1:n.2916+3_2916+6del
ENST00000686033.1:c.2916+3_2916+6del (ATP7A) ENSP00000510693.1:n.2916+3_2916+6del
ENST00000686133.1:c.2916+3_2916+6del (ATP7A) ENSP00000509233.1:n.2916+3_2916+6del
ENST00000686255.1:n.1947+3_1947+6del (ATP7A)
ENST00000686543.1:c.2682+3_2682+6del (ATP7A) ENSP00000509477.1:n.2682+3_2682+6del
ENST00000687086.1:c.2916+3_2916+6del (ATP7A) ENSP00000509566.1:n.2916+3_2916+6del
ENST00000689514.1:n.958+3_958+6del (ATP7A)
ENST00000689767.1:c.3009+3_3009+6del (ATP7A) ENSP00000509406.1:n.3009+3_3009+6del
ENST00000692908.1:c.2682+3_2682+6del (ATP7A) ENSP00000508627.1:n.2682+3_2682+6del
ENST00000341514.11:c.2916+3_2916+6del (ATP7A) MANE Select ENSP00000345728.6:n.2916+3_2916+6del
ENST00000644362.1:c.-19-88785_-19-88782del (PGK1) ENSP00000496140.1:n.-19-88785_-19-88782de...
ENST00000645094.1:c.*2830+3_*2830+6del (ATP7A) ENSP00000493605.1:n.*2830+3_*2830+6del
ENST00000341514.10:c.2916+3_2916+6del (ATP7A) ENSP00000345728.6:n.2916+3_2916+6del
ENST00000343533.9:c.2682+3_2682+6del (ATP7A) ENSP00000343026.5:n.2682+3_2682+6del
ENST00000350425.5:c.*2089+3_*2089+6del (ATP7A) ENSP00000343678.5:n.*2089+3_*2089+6del
NM_000052.6:c.2916+3_2916+6del (ATP7A) NP_000043.4:n.2916+3_2916+6del
NM_001282224.1:c.2682+3_2682+6del (ATP7A) NP_001269153.1:n.2682+3_2682+6del
NR_104109.1:n.322-10318_322-10315del (ATP7A)
NM_000052.7:c.2916+3_2916+6del (ATP7A) MANE Select NP_000043.4:n.2916+3_2916+6del
NR_104109.2:n.285-10318_285-10315del (ATP7A)
NM_001282224.2:c.2682+3_2682+6del (ATP7A) NP_001269153.1:n.2682+3_2682+6del