Canonical Allele Identifier: CA2576797091

Gene: ATP1A3

Linked Data

• gnomAD v4: 19-41970593-CCCTCTGCCCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41970603_41970613del , CM000681.2:g.41970603_41970613del	GRCh38
NC_000019.9:g.42474755_42474765del , CM000681.1:g.42474755_42474765del	GRCh37
NC_000019.8:g.47166595_47166605del	NCBI36
NG_008015.1:g.28627_28637del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.2303-62_2303-52del	ENSP00000444688.1:n.2303-62_2303-52del
ENST00000644613.1:c.2264-62_2264-52del	ENSP00000494711.1:n.2264-62_2264-52del
ENST00000648268.1:c.2264-62_2264-52del MANE Select	ENSP00000498113.1:n.2264-62_2264-52del
ENST00000302102.9:c.2264-62_2264-52del	ENSP00000302397.5:n.2264-62_2264-52del
ENST00000441343.5:c.2264-62_2264-52del	ENSP00000411503.1:n.2264-62_2264-52del
ENST00000543770.5:c.2297-62_2297-52del	ENSP00000437577.1:n.2297-62_2297-52del
ENST00000545399.5:c.2303-62_2303-52del	ENSP00000444688.1:n.2303-62_2303-52del
ENST00000602133.5:c.2174-62_2174-52del	ENSP00000471581.1:n.2174-62_2174-52del
NM_001256213.1:c.2297-62_2297-52del	NP_001243142.1:n.2297-62_2297-52del
NM_001256214.1:c.2303-62_2303-52del	NP_001243143.1:n.2303-62_2303-52del
NM_152296.4:c.2264-62_2264-52del	NP_689509.1:n.2264-62_2264-52del
XM_011526991.1:c.2174-62_2174-52del	XP_011525293.1:n.2174-62_2174-52del
NM_152296.5:c.2264-62_2264-52del MANE Select	NP_689509.1:n.2264-62_2264-52del
NM_001256214.2:c.2303-62_2303-52del	NP_001243143.1:n.2303-62_2303-52del
NM_001256213.2:c.2297-62_2297-52del	NP_001243142.1:n.2297-62_2297-52del