Canonical Allele Identifier: CA2585370580

Gene: ATP1A3

Linked Data

• dbSNP Id: rs2145977421
• gnomAD v4: 19-41984806-TAGCCCCTCCTCCCTCAGACTCAGGGGTCCAGGATCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41984826_41984862del , CM000681.2:g.41984826_41984862del	GRCh38
NC_000019.9:g.42488978_42489014del , CM000681.1:g.42488978_42489014del	GRCh37
NC_000019.8:g.47180818_47180854del	NCBI36
NG_008015.1:g.14388_14424del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.1032+75_1032+111del	ENSP00000444688.1:n.1032+75_1032+111del
ENST00000644613.1:c.993+75_993+111del	ENSP00000494711.1:n.993+75_993+111del
ENST00000648268.1:c.993+75_993+111del MANE Select	ENSP00000498113.1:n.993+75_993+111del
ENST00000302102.9:c.993+75_993+111del	ENSP00000302397.5:n.993+75_993+111del
ENST00000441343.5:c.993+75_993+111del	ENSP00000411503.1:n.993+75_993+111del
ENST00000485672.2:n.381_417del
ENST00000543770.5:c.1026+75_1026+111del	ENSP00000437577.1:n.1026+75_1026+111del
ENST00000545399.5:c.1032+75_1032+111del	ENSP00000444688.1:n.1032+75_1032+111del
ENST00000602133.5:c.903+75_903+111del	ENSP00000471581.1:n.903+75_903+111del
NM_001256213.1:c.1026+75_1026+111del	NP_001243142.1:n.1026+75_1026+111del
NM_001256214.1:c.1032+75_1032+111del	NP_001243143.1:n.1032+75_1032+111del
NM_152296.4:c.993+75_993+111del	NP_689509.1:n.993+75_993+111del
XM_011526991.1:c.903+75_903+111del	XP_011525293.1:n.903+75_903+111del
NM_152296.5:c.993+75_993+111del MANE Select	NP_689509.1:n.993+75_993+111del
NM_001256214.2:c.1032+75_1032+111del	NP_001243143.1:n.1032+75_1032+111del
NM_001256213.2:c.1026+75_1026+111del	NP_001243142.1:n.1026+75_1026+111del