Canonical Allele Identifier: CA996011993

Gene: ATP1A3

Linked Data

• dbSNP Id: rs2075270104
• gnomAD v3: 19-41984757-GGGTCCAGATCCC-G
• gnomAD v4: 19-41984757-GGGTCCAGATCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41984758_41984769del , CM000681.2:g.41984758_41984769del	GRCh38
NC_000019.9:g.42488910_42488921del , CM000681.1:g.42488910_42488921del	GRCh37
NC_000019.8:g.47180750_47180761del	NCBI36
NG_008015.1:g.14462_14473del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.1032+149_1032+160del	ENSP00000444688.1:n.1032+149_1032+160del
ENST00000644613.1:c.993+149_993+160del	ENSP00000494711.1:n.993+149_993+160del
ENST00000648268.1:c.993+149_993+160del MANE Select	ENSP00000498113.1:n.993+149_993+160del
ENST00000302102.9:c.993+149_993+160del	ENSP00000302397.5:n.993+149_993+160del
ENST00000441343.5:c.993+149_993+160del	ENSP00000411503.1:n.993+149_993+160del
ENST00000485672.2:n.455_466del
ENST00000543770.5:c.1026+149_1026+160del	ENSP00000437577.1:n.1026+149_1026+160del
ENST00000545399.5:c.1032+149_1032+160del	ENSP00000444688.1:n.1032+149_1032+160del
ENST00000602133.5:c.903+149_903+160del	ENSP00000471581.1:n.903+149_903+160del
NM_001256213.1:c.1026+149_1026+160del	NP_001243142.1:n.1026+149_1026+160del
NM_001256214.1:c.1032+149_1032+160del	NP_001243143.1:n.1032+149_1032+160del
NM_152296.4:c.993+149_993+160del	NP_689509.1:n.993+149_993+160del
XM_011526991.1:c.903+149_903+160del	XP_011525293.1:n.903+149_903+160del
NM_152296.5:c.993+149_993+160del MANE Select	NP_689509.1:n.993+149_993+160del
NM_001256214.2:c.1032+149_1032+160del	NP_001243143.1:n.1032+149_1032+160del
NM_001256213.2:c.1026+149_1026+160del	NP_001243142.1:n.1026+149_1026+160del