Canonical Allele Identifier: CA9467801

Gene: ATP1A3

Linked Data

• dbSNP Id: rs782804961
• ExAC: 19:42489444 TGCACCC / T
• gnomAD v2: 19-42489444-TGCACCC-T
• gnomAD v3: 19-41985292-TGCACCC-T
• gnomAD v4: 19-41985292-TGCACCC-T
• MyVariant Identifiers: chr19:g.42489445_42489450del (hg19) ; chr19:g.41985293_41985298del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41985295_41985300del , CM000681.2:g.41985295_41985300del	GRCh38
NC_000019.9:g.42489447_42489452del , CM000681.1:g.42489447_42489452del	GRCh37
NC_000019.8:g.47181287_47181292del	NCBI36
NG_008015.1:g.13933_13938del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.763+8_763+13del	ENSP00000444688.1:n.763+8_763+13del
ENST00000644613.1:c.724+8_724+13del	ENSP00000494711.1:n.724+8_724+13del
ENST00000645448.1:n.964_969del
ENST00000648268.1:c.724+8_724+13del MANE Select	ENSP00000498113.1:n.724+8_724+13del
ENST00000302102.9:c.724+8_724+13del	ENSP00000302397.5:n.724+8_724+13del
ENST00000441343.5:c.724+8_724+13del	ENSP00000411503.1:n.724+8_724+13del
ENST00000473086.3:c.634+8_634+13del	ENSP00000469129.2:n.634+8_634+13del
ENST00000485672.2:n.37+8_37+13del
ENST00000543770.5:c.757+8_757+13del	ENSP00000437577.1:n.757+8_757+13del
ENST00000545399.5:c.763+8_763+13del	ENSP00000444688.1:n.763+8_763+13del
ENST00000602133.5:c.634+8_634+13del	ENSP00000471581.1:n.634+8_634+13del
NM_001256213.1:c.757+8_757+13del	NP_001243142.1:n.757+8_757+13del
NM_001256214.1:c.763+8_763+13del	NP_001243143.1:n.763+8_763+13del
NM_152296.4:c.724+8_724+13del	NP_689509.1:n.724+8_724+13del
XM_011526991.1:c.634+8_634+13del	XP_011525293.1:n.634+8_634+13del
NM_152296.5:c.724+8_724+13del MANE Select	NP_689509.1:n.724+8_724+13del
NM_001256214.2:c.763+8_763+13del	NP_001243143.1:n.763+8_763+13del
NM_001256213.2:c.757+8_757+13del	NP_001243142.1:n.757+8_757+13del