Canonical Allele Identifier: CA1156020978

Gene: ATP13A2

Linked Data

• dbSNP Id: rs2076855350
• gnomAD v4: 1-16989677-T-TGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16989678_16989679insAAG , CM000663.2:g.16989678_16989679insAAG	GRCh38
NC_000001.10:g.17316173_17316174insAAG , CM000663.1:g.17316173_17316174insAAG	GRCh37
NC_000001.9:g.17188760_17188761insAAG	NCBI36
NG_009054.1:g.27251_27252insTTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.2609+13_2609+14insTTC MANE Select	ENSP00000327214.8:n.2609+13_2609+14insTTC...
ENST00000326735.12:c.2609+13_2609+14insTTC	ENSP00000327214.8:n.2609+13_2609+14insTTC...
ENST00000341676.9:c.2477+13_2477+14insTTC	ENSP00000341115.5:n.2477+13_2477+14insTTC...
ENST00000452699.5:c.2594+13_2594+14insTTC	ENSP00000413307.1:n.2594+13_2594+14insTTC...
ENST00000466561.1:n.483+13_483+14insTTC
ENST00000502418.1:c.197+13_197+14insTTC	ENSP00000423065.1:n.197+13_197+14insTTC
NM_001141973.2:c.2594+13_2594+14insTTC	NP_001135445.1:n.2594+13_2594+14insTTC
NM_001141974.2:c.2477+13_2477+14insTTC	NP_001135446.1:n.2477+13_2477+14insTTC
NM_022089.3:c.2609+13_2609+14insTTC	NP_071372.1:n.2609+13_2609+14insTTC
XM_005245809.1:c.2609+13_2609+14insTTC	XP_005245866.1:n.2609+13_2609+14insTTC
XM_005245810.1:c.2606+13_2606+14insTTC	XP_005245867.1:n.2606+13_2606+14insTTC
XM_005245811.1:c.2594+13_2594+14insTTC	XP_005245868.1:n.2594+13_2594+14insTTC
XM_005245812.1:c.2582+13_2582+14insTTC	XP_005245869.1:n.2582+13_2582+14insTTC
XM_005245813.1:c.2549+13_2549+14insTTC	XP_005245870.1:n.2549+13_2549+14insTTC
XM_005245815.1:c.2492+13_2492+14insTTC	XP_005245872.1:n.2492+13_2492+14insTTC
XM_006710512.1:c.2591+13_2591+14insTTC	XP_006710575.1:n.2591+13_2591+14insTTC
XM_006710513.1:c.2567+13_2567+14insTTC	XP_006710576.1:n.2567+13_2567+14insTTC
XM_011541128.1:c.2594+13_2594+14insTTC	XP_011539430.1:n.2594+13_2594+14insTTC
XM_011541129.1:c.2402+13_2402+14insTTC	XP_011539431.1:n.2402+13_2402+14insTTC
XM_017000844.1:c.2594+13_2594+14insTTC	XP_016856333.1:n.2594+13_2594+14insTTC
XM_017000845.1:c.2591+13_2591+14insTTC	XP_016856334.1:n.2591+13_2591+14insTTC
XM_017000846.1:c.2567+13_2567+14insTTC	XP_016856335.1:n.2567+13_2567+14insTTC
XM_017000847.1:c.2564+13_2564+14insTTC	XP_016856336.1:n.2564+13_2564+14insTTC
XM_017000848.1:c.2492+13_2492+14insTTC	XP_016856337.1:n.2492+13_2492+14insTTC
XM_017000849.1:c.2477+13_2477+14insTTC	XP_016856338.1:n.2477+13_2477+14insTTC
XM_017000850.1:c.2402+13_2402+14insTTC	XP_016856339.1:n.2402+13_2402+14insTTC
NM_022089.4:c.2609+13_2609+14insTTC MANE Select	NP_071372.1:n.2609+13_2609+14insTTC
NM_001141973.3:c.2594+13_2594+14insTTC	NP_001135445.1:n.2594+13_2594+14insTTC
NM_001141974.3:c.2477+13_2477+14insTTC	NP_001135446.1:n.2477+13_2477+14insTTC