Canonical Allele Identifier: CA2576797074
Gene: ATP1A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41970144_41970164del , CM000681.2:g.41970144_41970164del GRCh38
NC_000019.9:g.42474296_42474316del , CM000681.1:g.42474296_42474316del GRCh37
NC_000019.8:g.47166136_47166156del NCBI36
NG_008015.1:g.29067_29087del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545399.6:c.2581+21_2581+41del ENSP00000444688.1:n.2581+21_2581+41del
ENST00000644613.1:c.2542+21_2542+41del ENSP00000494711.1:n.2542+21_2542+41del
ENST00000648268.1:c.2542+21_2542+41del MANE Select ENSP00000498113.1:n.2542+21_2542+41del
ENST00000302102.9:c.2542+21_2542+41del ENSP00000302397.5:n.2542+21_2542+41del
ENST00000441343.5:c.2542+21_2542+41del ENSP00000411503.1:n.2542+21_2542+41del
ENST00000543770.5:c.2575+21_2575+41del ENSP00000437577.1:n.2575+21_2575+41del
ENST00000545399.5:c.2581+21_2581+41del ENSP00000444688.1:n.2581+21_2581+41del
ENST00000602133.5:c.2452+21_2452+41del ENSP00000471581.1:n.2452+21_2452+41del
NM_001256213.1:c.2575+21_2575+41del NP_001243142.1:n.2575+21_2575+41del
NM_001256214.1:c.2581+21_2581+41del NP_001243143.1:n.2581+21_2581+41del
NM_152296.4:c.2542+21_2542+41del NP_689509.1:n.2542+21_2542+41del
XM_011526991.1:c.2452+21_2452+41del XP_011525293.1:n.2452+21_2452+41del
NM_152296.5:c.2542+21_2542+41del MANE Select NP_689509.1:n.2542+21_2542+41del
NM_001256214.2:c.2581+21_2581+41del NP_001243143.1:n.2581+21_2581+41del
NM_001256213.2:c.2575+21_2575+41del NP_001243142.1:n.2575+21_2575+41del