Canonical Allele Identifier: CA2336720887

Gene: ATP1A3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41969975_41969978delinsACTC , CM000681.2:g.41969975_41969978delinsACTC	GRCh38
NC_000019.9:g.42474127_42474130delinsACTC , CM000681.1:g.42474127_42474130delinsACTC	GRCh37
NC_000019.8:g.47165967_47165970delinsACTC	NCBI36
NG_008015.1:g.29253_29256delinsGAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.2581+207_2581+210delinsGAGT	ENSP00000444688.1:n.2581+207_2581+210delinsGAGT
ENST00000644613.1:c.2542+207_2542+210delinsGAGT	ENSP00000494711.1:n.2542+207_2542+210delinsGAGT
ENST00000648268.1:c.2542+207_2542+210delinsGAGT MANE Select	ENSP00000498113.1:n.2542+207_2542+210delinsGAGT
ENST00000302102.9:c.2542+207_2542+210delinsGAGT	ENSP00000302397.5:n.2542+207_2542+210delinsGAGT
ENST00000441343.5:c.2542+207_2542+210delinsGAGT	ENSP00000411503.1:n.2542+207_2542+210delinsGAGT
ENST00000543770.5:c.2575+207_2575+210delinsGAGT	ENSP00000437577.1:n.2575+207_2575+210delinsGAGT
ENST00000545399.5:c.2581+207_2581+210delinsGAGT	ENSP00000444688.1:n.2581+207_2581+210delinsGAGT
ENST00000602133.5:c.2452+207_2452+210delinsGAGT	ENSP00000471581.1:n.2452+207_2452+210delinsGAGT
NM_001256213.1:c.2575+207_2575+210delinsGAGT	NP_001243142.1:n.2575+207_2575+210delinsGAGT
NM_001256214.1:c.2581+207_2581+210delinsGAGT	NP_001243143.1:n.2581+207_2581+210delinsGAGT
NM_152296.4:c.2542+207_2542+210delinsGAGT	NP_689509.1:n.2542+207_2542+210delinsGAGT
XM_011526991.1:c.2452+207_2452+210delinsGAGT	XP_011525293.1:n.2452+207_2452+210delinsGAGT
NM_152296.5:c.2542+207_2542+210delinsGAGT MANE Select	NP_689509.1:n.2542+207_2542+210delinsGAGT
NM_001256214.2:c.2581+207_2581+210delinsGAGT	NP_001243143.1:n.2581+207_2581+210delinsGAGT
NM_001256213.2:c.2575+207_2575+210delinsGAGT	NP_001243142.1:n.2575+207_2575+210delinsGAGT