Canonical Allele Identifier: CA2336724790

Gene: ATP1A3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41977875_41977882delinsGTCCCCCT , CM000681.2:g.41977875_41977882delinsGTCCCCCT	GRCh38
NC_000019.9:g.42482027_42482034delinsGTCCCCCT , CM000681.1:g.42482027_42482034delinsGTCCCCCT	GRCh37
NC_000019.8:g.47173867_47173874delinsGTCCCCCT	NCBI36
NG_008015.1:g.21349_21356delinsAGGGGGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.1982+54_1982+61delinsAGGGGGAC	ENSP00000444688.1:n.1982+54_1982+61delinsAGGGGGAC
ENST00000644613.1:c.1943+54_1943+61delinsAGGGGGAC	ENSP00000494711.1:n.1943+54_1943+61delinsAGGGGGAC
ENST00000648268.1:c.1943+54_1943+61delinsAGGGGGAC MANE Select	ENSP00000498113.1:n.1943+54_1943+61delinsAGGGGGAC
ENST00000302102.9:c.1943+54_1943+61delinsAGGGGGAC	ENSP00000302397.5:n.1943+54_1943+61delinsAGGGGGAC
ENST00000441343.5:c.1943+54_1943+61delinsAGGGGGAC	ENSP00000411503.1:n.1943+54_1943+61delinsAGGGGGAC
ENST00000543770.5:c.1976+54_1976+61delinsAGGGGGAC	ENSP00000437577.1:n.1976+54_1976+61delinsAGGGGGAC
ENST00000545399.5:c.1982+54_1982+61delinsAGGGGGAC	ENSP00000444688.1:n.1982+54_1982+61delinsAGGGGGAC
ENST00000602133.5:c.1853+54_1853+61delinsAGGGGGAC	ENSP00000471581.1:n.1853+54_1853+61delinsAGGGGGAC
NM_001256213.1:c.1976+54_1976+61delinsAGGGGGAC	NP_001243142.1:n.1976+54_1976+61delinsAGGGGGAC
NM_001256214.1:c.1982+54_1982+61delinsAGGGGGAC	NP_001243143.1:n.1982+54_1982+61delinsAGGGGGAC
NM_152296.4:c.1943+54_1943+61delinsAGGGGGAC	NP_689509.1:n.1943+54_1943+61delinsAGGGGGAC
XM_011526991.1:c.1853+54_1853+61delinsAGGGGGAC	XP_011525293.1:n.1853+54_1853+61delinsAGGGGGAC
NM_152296.5:c.1943+54_1943+61delinsAGGGGGAC MANE Select	NP_689509.1:n.1943+54_1943+61delinsAGGGGGAC
NM_001256214.2:c.1982+54_1982+61delinsAGGGGGAC	NP_001243143.1:n.1982+54_1982+61delinsAGGGGGAC
NM_001256213.2:c.1976+54_1976+61delinsAGGGGGAC	NP_001243142.1:n.1976+54_1976+61delinsAGGGGGAC