Canonical Allele Identifier: CA9467746

Gene: ATP1A3

Linked Data

• dbSNP Id: rs782214451
• ExAC: 19:42489027 AC / A
• gnomAD v2: 19-42489027-AC-A
• gnomAD v4: 19-41984875-AC-A
• MyVariant Identifiers: chr19:g.42489028del (hg19) ; chr19:g.41984876del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41984880del , CM000681.2:g.41984880del	GRCh38
NC_000019.9:g.42489032del , CM000681.1:g.42489032del	GRCh37
NC_000019.8:g.47180872del	NCBI36
NG_008015.1:g.14355del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.1032+42del	ENSP00000444688.1:n.1032+42del
ENST00000644613.1:c.993+42del	ENSP00000494711.1:n.993+42del
ENST00000648268.1:c.993+42del MANE Select	ENSP00000498113.1:n.993+42del
ENST00000302102.9:c.993+42del	ENSP00000302397.5:n.993+42del
ENST00000441343.5:c.993+42del	ENSP00000411503.1:n.993+42del
ENST00000485672.2:n.348del
ENST00000543770.5:c.1026+42del	ENSP00000437577.1:n.1026+42del
ENST00000545399.5:c.1032+42del	ENSP00000444688.1:n.1032+42del
ENST00000602133.5:c.903+42del	ENSP00000471581.1:n.903+42del
NM_001256213.1:c.1026+42del	NP_001243142.1:n.1026+42del
NM_001256214.1:c.1032+42del	NP_001243143.1:n.1032+42del
NM_152296.4:c.993+42del	NP_689509.1:n.993+42del
XM_011526991.1:c.903+42del	XP_011525293.1:n.903+42del
NM_152296.5:c.993+42del MANE Select	NP_689509.1:n.993+42del
NM_001256214.2:c.1032+42del	NP_001243143.1:n.1032+42del
NM_001256213.2:c.1026+42del	NP_001243142.1:n.1026+42del