Canonical Allele Identifier: CA2585370516

Gene: ATP1A3

Linked Data

• gnomAD v4: 19-41984763-AGATCCCAGCCCCTCCTCCCCCAGACACACGGGTCCAGGCCTCTAGCCCCTCCTCCCTCAGACTCAGGGGTCCAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41984783_41984856del , CM000681.2:g.41984783_41984856del	GRCh38
NC_000019.9:g.42488935_42489008del , CM000681.1:g.42488935_42489008del	GRCh37
NC_000019.8:g.47180775_47180848del	NCBI36
NG_008015.1:g.14394_14467del

Transcript Alleles

HGVS	Amino-acid change
ENST00000545399.6:c.1032+81_1032+154del	ENSP00000444688.1:n.1032+81_1032+154del
ENST00000644613.1:c.993+81_993+154del	ENSP00000494711.1:n.993+81_993+154del
ENST00000648268.1:c.993+81_993+154del MANE Select	ENSP00000498113.1:n.993+81_993+154del
ENST00000302102.9:c.993+81_993+154del	ENSP00000302397.5:n.993+81_993+154del
ENST00000441343.5:c.993+81_993+154del	ENSP00000411503.1:n.993+81_993+154del
ENST00000485672.2:n.387_460del
ENST00000543770.5:c.1026+81_1026+154del	ENSP00000437577.1:n.1026+81_1026+154del
ENST00000545399.5:c.1032+81_1032+154del	ENSP00000444688.1:n.1032+81_1032+154del
ENST00000602133.5:c.903+81_903+154del	ENSP00000471581.1:n.903+81_903+154del
NM_001256213.1:c.1026+81_1026+154del	NP_001243142.1:n.1026+81_1026+154del
NM_001256214.1:c.1032+81_1032+154del	NP_001243143.1:n.1032+81_1032+154del
NM_152296.4:c.993+81_993+154del	NP_689509.1:n.993+81_993+154del
XM_011526991.1:c.903+81_903+154del	XP_011525293.1:n.903+81_903+154del
NM_152296.5:c.993+81_993+154del MANE Select	NP_689509.1:n.993+81_993+154del
NM_001256214.2:c.1032+81_1032+154del	NP_001243143.1:n.1032+81_1032+154del
NM_001256213.2:c.1026+81_1026+154del	NP_001243142.1:n.1026+81_1026+154del