Canonical Allele Identifier: CA2585369061

Gene: ATP1A3

Linked Data

• gnomAD v4: 19-41970654-C-CTCTGTCTCAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41970654_41970655insTCTGTCTCAAAAAAA , CM000681.2:g.41970654_41970655insTCTGTCTCAAAAAAA	GRCh38
NC_000019.9:g.42474806_42474807insTCTGTCTCAAAAAAA , CM000681.1:g.42474806_42474807insTCTGTCTCAAAAAAA	GRCh37
NC_000019.8:g.47166646_47166647insTCTGTCTCAAAAAAA	NCBI36
NG_008015.1:g.28576_28577insTTTTTTTGAGACAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.2303-113_2303-112insTTTTTTTGAGACAGA	ENSP00000444688.1:n.2303-113_2303-112insTTTTTTTGAGACAGA
ENST00000644613.1:c.2264-113_2264-112insTTTTTTTGAGACAGA	ENSP00000494711.1:n.2264-113_2264-112insTTTTTTTGAGACAGA
ENST00000648268.1:c.2264-113_2264-112insTTTTTTTGAGACAGA MANE Select	ENSP00000498113.1:n.2264-113_2264-112insTTTTTTTGAGACAGA
ENST00000302102.9:c.2264-113_2264-112insTTTTTTTGAGACAGA	ENSP00000302397.5:n.2264-113_2264-112insTTTTTTTGAGACAGA
ENST00000441343.5:c.2264-113_2264-112insTTTTTTTGAGACAGA	ENSP00000411503.1:n.2264-113_2264-112insTTTTTTTGAGACAGA
ENST00000543770.5:c.2297-113_2297-112insTTTTTTTGAGACAGA	ENSP00000437577.1:n.2297-113_2297-112insTTTTTTTGAGACAGA
ENST00000545399.5:c.2303-113_2303-112insTTTTTTTGAGACAGA	ENSP00000444688.1:n.2303-113_2303-112insTTTTTTTGAGACAGA
ENST00000602133.5:c.2174-113_2174-112insTTTTTTTGAGACAGA	ENSP00000471581.1:n.2174-113_2174-112insTTTTTTTGAGACAGA
NM_001256213.1:c.2297-113_2297-112insTTTTTTTGAGACAGA	NP_001243142.1:n.2297-113_2297-112insTTTTTTTGAGACAGA
NM_001256214.1:c.2303-113_2303-112insTTTTTTTGAGACAGA	NP_001243143.1:n.2303-113_2303-112insTTTTTTTGAGACAGA
NM_152296.4:c.2264-113_2264-112insTTTTTTTGAGACAGA	NP_689509.1:n.2264-113_2264-112insTTTTTTTGAGACAGA
XM_011526991.1:c.2174-113_2174-112insTTTTTTTGAGACAGA	XP_011525293.1:n.2174-113_2174-112insTTTTTTTGAGACAGA
NM_152296.5:c.2264-113_2264-112insTTTTTTTGAGACAGA MANE Select	NP_689509.1:n.2264-113_2264-112insTTTTTTTGAGACAGA
NM_001256214.2:c.2303-113_2303-112insTTTTTTTGAGACAGA	NP_001243143.1:n.2303-113_2303-112insTTTTTTTGAGACAGA
NM_001256213.2:c.2297-113_2297-112insTTTTTTTGAGACAGA	NP_001243142.1:n.2297-113_2297-112insTTTTTTTGAGACAGA