Canonical Allele Identifier: CA2695228879
Gene: ATP1A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41984922_41984927del , CM000681.2:g.41984922_41984927del GRCh38
NC_000019.9:g.42489074_42489079del , CM000681.1:g.42489074_42489079del GRCh37
NC_000019.8:g.47180914_47180919del NCBI36
NG_008015.1:g.14310_14315del

Transcript Alleles

HGVS Amino-acid change
ENST00000545399.6:c.1029_1032+2del
ENST00000644613.1:c.990_993+2del
ENST00000648268.1:c.990_993+2del
ENST00000302102.9:c.990_993+2del
ENST00000441343.5:c.990_993+2del
ENST00000485672.2:n.303_308del
ENST00000543770.5:c.1023_1026+2del
ENST00000545399.5:c.1029_1032+2del
ENST00000602133.5:c.900_903+2del
NM_001256213.1:c.1023_1026+2del
NM_001256214.1:c.1029_1032+2del
NM_152296.4:c.990_993+2del
XM_011526991.1:c.900_903+2del
NM_152296.5:c.990_993+2del
NM_001256214.2:c.1029_1032+2del
NM_001256213.2:c.1023_1026+2del