Canonical Allele Identifier: CA996017926

Gene: ATP1A3

Linked Data

• gnomAD v3: 19-41970626-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
• gnomAD v4: 19-41970626-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41970649_41970650insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000681.2:g.41970649_41970650insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000019.9:g.42474801_42474802insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000681.1:g.42474801_42474802insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000019.8:g.47166641_47166642insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_008015.1:g.28604_28605insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545399.6:c.2303-85_2303-84insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000444688.1:n.2303-85_2303-84insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000644613.1:c.2264-85_2264-84insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000494711.1:n.2264-85_2264-84insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000648268.1:c.2264-85_2264-84insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	ENSP00000498113.1:n.2264-85_2264-84insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000302102.9:c.2264-85_2264-84insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000302397.5:n.2264-85_2264-84insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000441343.5:c.2264-85_2264-84insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000411503.1:n.2264-85_2264-84insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000543770.5:c.2297-85_2297-84insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000437577.1:n.2297-85_2297-84insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000545399.5:c.2303-85_2303-84insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000444688.1:n.2303-85_2303-84insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000602133.5:c.2174-85_2174-84insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000471581.1:n.2174-85_2174-84insAAAAAAAAAAAAAAAAAAAAAAA...
NM_001256213.1:c.2297-85_2297-84insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_001243142.1:n.2297-85_2297-84insAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_001256214.1:c.2303-85_2303-84insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_001243143.1:n.2303-85_2303-84insAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_152296.4:c.2264-85_2264-84insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_689509.1:n.2264-85_2264-84insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
XM_011526991.1:c.2174-85_2174-84insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_011525293.1:n.2174-85_2174-84insAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_152296.5:c.2264-85_2264-84insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	NP_689509.1:n.2264-85_2264-84insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_001256214.2:c.2303-85_2303-84insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_001243143.1:n.2303-85_2303-84insAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_001256213.2:c.2297-85_2297-84insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_001243142.1:n.2297-85_2297-84insAAAAAAAAAAAAAAAAAAAAAAAAAA...