Canonical Allele Identifier: CA2814451223

Gene: ATP1A3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41969971_41969972insCAGGGCTCACCATGTCAGTGCCCAGATCGATGCAGAGGA , CM000681.2:g.41969971_41969972insCAGGGCTCACCATGTCAGTGCCCAGATCGATGCAGAGGA	GRCh38
NC_000019.9:g.42474123_42474124insCAGGGCTCACCATGTCAGTGCCCAGATCGATGCAGAGGA , CM000681.1:g.42474123_42474124insCAGGGCTCACCATGTCAGTGCCCAGATCGATGCAGAGGA	GRCh37
NC_000019.8:g.47165963_47165964insCAGGGCTCACCATGTCAGTGCCCAGATCGATGCAGAGGA	NCBI36
NG_008015.1:g.29259_29260insTCCTCTGCATCGATCTGGGCACTGACATGGTGAGCCCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.2581+213_2581+214insTCCTCTGCATCGATCTGGGCACTGACATGGTGAGCCCTG	ENSP00000444688.1:n.2581+213_2581+214insTCCTCTGCATCGATCTGGGCA...
ENST00000644613.1:c.2542+213_2542+214insTCCTCTGCATCGATCTGGGCACTGACATGGTGAGCCCTG	ENSP00000494711.1:n.2542+213_2542+214insTCCTCTGCATCGATCTGGGCA...
ENST00000648268.1:c.2542+213_2542+214insTCCTCTGCATCGATCTGGGCACTGACATGGTGAGCCCTG MANE Select	ENSP00000498113.1:n.2542+213_2542+214insTCCTCTGCATCGATCTGGGCA...
ENST00000302102.9:c.2542+213_2542+214insTCCTCTGCATCGATCTGGGCACTGACATGGTGAGCCCTG	ENSP00000302397.5:n.2542+213_2542+214insTCCTCTGCATCGATCTGGGCA...
ENST00000441343.5:c.2542+213_2542+214insTCCTCTGCATCGATCTGGGCACTGACATGGTGAGCCCTG	ENSP00000411503.1:n.2542+213_2542+214insTCCTCTGCATCGATCTGGGCA...
ENST00000543770.5:c.2575+213_2575+214insTCCTCTGCATCGATCTGGGCACTGACATGGTGAGCCCTG	ENSP00000437577.1:n.2575+213_2575+214insTCCTCTGCATCGATCTGGGCA...
ENST00000545399.5:c.2581+213_2581+214insTCCTCTGCATCGATCTGGGCACTGACATGGTGAGCCCTG	ENSP00000444688.1:n.2581+213_2581+214insTCCTCTGCATCGATCTGGGCA...
ENST00000602133.5:c.2452+213_2452+214insTCCTCTGCATCGATCTGGGCACTGACATGGTGAGCCCTG	ENSP00000471581.1:n.2452+213_2452+214insTCCTCTGCATCGATCTGGGCA...
NM_001256213.1:c.2575+213_2575+214insTCCTCTGCATCGATCTGGGCACTGACATGGTGAGCCCTG	NP_001243142.1:n.2575+213_2575+214insTCCTCTGCATCGATCTGGGCACTG...
NM_001256214.1:c.2581+213_2581+214insTCCTCTGCATCGATCTGGGCACTGACATGGTGAGCCCTG	NP_001243143.1:n.2581+213_2581+214insTCCTCTGCATCGATCTGGGCACTG...
NM_152296.4:c.2542+213_2542+214insTCCTCTGCATCGATCTGGGCACTGACATGGTGAGCCCTG	NP_689509.1:n.2542+213_2542+214insTCCTCTGCATCGATCTGGGCACTGACA...
XM_011526991.1:c.2452+213_2452+214insTCCTCTGCATCGATCTGGGCACTGACATGGTGAGCCCTG	XP_011525293.1:n.2452+213_2452+214insTCCTCTGCATCGATCTGGGCACTG...
NM_152296.5:c.2542+213_2542+214insTCCTCTGCATCGATCTGGGCACTGACATGGTGAGCCCTG MANE Select	NP_689509.1:n.2542+213_2542+214insTCCTCTGCATCGATCTGGGCACTGACA...
NM_001256214.2:c.2581+213_2581+214insTCCTCTGCATCGATCTGGGCACTGACATGGTGAGCCCTG	NP_001243143.1:n.2581+213_2581+214insTCCTCTGCATCGATCTGGGCACTG...
NM_001256213.2:c.2575+213_2575+214insTCCTCTGCATCGATCTGGGCACTGACATGGTGAGCCCTG	NP_001243142.1:n.2575+213_2575+214insTCCTCTGCATCGATCTGGGCACTG...