Canonical Allele Identifier: CA2585370644

Gene: ATP1A3

Linked Data

• gnomAD v4: 19-41985149-G-GCGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41985152_41985155dup , CM000681.2:g.41985152_41985155dup	GRCh38
NC_000019.9:g.42489304_42489307dup , CM000681.1:g.42489304_42489307dup	GRCh37
NC_000019.8:g.47181144_47181147dup	NCBI36
NG_008015.1:g.14078_14081dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.797_800dup	ENSP00000444688.1:p.Thr268ProfsTer26
ENST00000644613.1:c.758_761dup	ENSP00000494711.1:p.Thr255ProfsTer26
ENST00000648268.1:c.758_761dup MANE Select	ENSP00000498113.1:p.Thr255ProfsTer26
ENST00000302102.9:c.758_761dup	ENSP00000302397.5:p.Thr255ProfsTer26
ENST00000441343.5:c.758_761dup	ENSP00000411503.1:p.Thr255ProfsTer26
ENST00000473086.3:c.668_671dup	ENSP00000469129.2:p.Thr225ProfsTer26
ENST00000485672.2:n.71_74dup
ENST00000543770.5:c.791_794dup	ENSP00000437577.1:p.Thr266ProfsTer26
ENST00000545399.5:c.797_800dup	ENSP00000444688.1:p.Thr268ProfsTer26
ENST00000602133.5:c.668_671dup	ENSP00000471581.1:p.Thr225ProfsTer26
NM_001256213.1:c.791_794dup	NP_001243142.1:p.Thr266ProfsTer26
NM_001256214.1:c.797_800dup	NP_001243143.1:p.Thr268ProfsTer26
NM_152296.4:c.758_761dup	NP_689509.1:p.Thr255ProfsTer26
XM_011526991.1:c.668_671dup	XP_011525293.1:p.Thr225ProfsTer26
NM_152296.5:c.758_761dup MANE Select	NP_689509.1:p.Thr255ProfsTer26
NM_001256214.2:c.797_800dup	NP_001243143.1:p.Thr268ProfsTer26
NM_001256213.2:c.791_794dup	NP_001243142.1:p.Thr266ProfsTer26