Canonical Allele Identifier: CA2336721163

Gene: ATP1A3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41970626_41970640delinsCTTTTTTTTTTTTTT , CM000681.2:g.41970626_41970640delinsCTTTTTTTTTTTTTT	GRCh38
NC_000019.9:g.42474778_42474792delinsCTTTTTTTTTTTTTT , CM000681.1:g.42474778_42474792delinsCTTTTTTTTTTTTTT	GRCh37
NC_000019.8:g.47166618_47166632delinsCTTTTTTTTTTTTTT	NCBI36
NG_008015.1:g.28591_28605delinsAAAAAAAAAAAAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.2303-98_2303-84delinsAAAAAAAAAAAAAAG	ENSP00000444688.1:n.2303-98_2303-84delinsAAAAAAAAAAAAAAG
ENST00000644613.1:c.2264-98_2264-84delinsAAAAAAAAAAAAAAG	ENSP00000494711.1:n.2264-98_2264-84delinsAAAAAAAAAAAAAAG
ENST00000648268.1:c.2264-98_2264-84delinsAAAAAAAAAAAAAAG MANE Select	ENSP00000498113.1:n.2264-98_2264-84delinsAAAAAAAAAAAAAAG
ENST00000302102.9:c.2264-98_2264-84delinsAAAAAAAAAAAAAAG	ENSP00000302397.5:n.2264-98_2264-84delinsAAAAAAAAAAAAAAG
ENST00000441343.5:c.2264-98_2264-84delinsAAAAAAAAAAAAAAG	ENSP00000411503.1:n.2264-98_2264-84delinsAAAAAAAAAAAAAAG
ENST00000543770.5:c.2297-98_2297-84delinsAAAAAAAAAAAAAAG	ENSP00000437577.1:n.2297-98_2297-84delinsAAAAAAAAAAAAAAG
ENST00000545399.5:c.2303-98_2303-84delinsAAAAAAAAAAAAAAG	ENSP00000444688.1:n.2303-98_2303-84delinsAAAAAAAAAAAAAAG
ENST00000602133.5:c.2174-98_2174-84delinsAAAAAAAAAAAAAAG	ENSP00000471581.1:n.2174-98_2174-84delinsAAAAAAAAAAAAAAG
NM_001256213.1:c.2297-98_2297-84delinsAAAAAAAAAAAAAAG	NP_001243142.1:n.2297-98_2297-84delinsAAAAAAAAAAAAAAG
NM_001256214.1:c.2303-98_2303-84delinsAAAAAAAAAAAAAAG	NP_001243143.1:n.2303-98_2303-84delinsAAAAAAAAAAAAAAG
NM_152296.4:c.2264-98_2264-84delinsAAAAAAAAAAAAAAG	NP_689509.1:n.2264-98_2264-84delinsAAAAAAAAAAAAAAG
XM_011526991.1:c.2174-98_2174-84delinsAAAAAAAAAAAAAAG	XP_011525293.1:n.2174-98_2174-84delinsAAAAAAAAAAAAAAG
NM_152296.5:c.2264-98_2264-84delinsAAAAAAAAAAAAAAG MANE Select	NP_689509.1:n.2264-98_2264-84delinsAAAAAAAAAAAAAAG
NM_001256214.2:c.2303-98_2303-84delinsAAAAAAAAAAAAAAG	NP_001243143.1:n.2303-98_2303-84delinsAAAAAAAAAAAAAAG
NM_001256213.2:c.2297-98_2297-84delinsAAAAAAAAAAAAAAG	NP_001243142.1:n.2297-98_2297-84delinsAAAAAAAAAAAAAAG