Canonical Allele Identifier: CA2336727742

Gene: ATP1A3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41984427_41984428delinsGT , CM000681.2:g.41984427_41984428delinsGT	GRCh38
NC_000019.9:g.42488579_42488580delinsGT , CM000681.1:g.42488579_42488580delinsGT	GRCh37
NC_000019.8:g.47180419_47180420delinsGT	NCBI36
NG_008015.1:g.14803_14804delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.1032+490_1032+491delinsAC	ENSP00000444688.1:n.1032+490_1032+491delinsAC
ENST00000644613.1:c.993+490_993+491delinsAC	ENSP00000494711.1:n.993+490_993+491delinsAC
ENST00000648268.1:c.993+490_993+491delinsAC MANE Select	ENSP00000498113.1:n.993+490_993+491delinsAC
ENST00000302102.9:c.993+490_993+491delinsAC	ENSP00000302397.5:n.993+490_993+491delinsAC
ENST00000441343.5:c.993+490_993+491delinsAC	ENSP00000411503.1:n.993+490_993+491delinsAC
ENST00000485672.2:n.796_797delinsAC
ENST00000543770.5:c.1026+490_1026+491delinsAC	ENSP00000437577.1:n.1026+490_1026+491delinsAC
ENST00000545399.5:c.1032+490_1032+491delinsAC	ENSP00000444688.1:n.1032+490_1032+491delinsAC
ENST00000602133.5:c.903+490_903+491delinsAC	ENSP00000471581.1:n.903+490_903+491delinsAC
NM_001256213.1:c.1026+490_1026+491delinsAC	NP_001243142.1:n.1026+490_1026+491delinsAC
NM_001256214.1:c.1032+490_1032+491delinsAC	NP_001243143.1:n.1032+490_1032+491delinsAC
NM_152296.4:c.993+490_993+491delinsAC	NP_689509.1:n.993+490_993+491delinsAC
XM_011526991.1:c.903+490_903+491delinsAC	XP_011525293.1:n.903+490_903+491delinsAC
NM_152296.5:c.993+490_993+491delinsAC MANE Select	NP_689509.1:n.993+490_993+491delinsAC
NM_001256214.2:c.1032+490_1032+491delinsAC	NP_001243143.1:n.1032+490_1032+491delinsAC
NM_001256213.2:c.1026+490_1026+491delinsAC	NP_001243142.1:n.1026+490_1026+491delinsAC