Canonical Allele Identifier: CA2643672921

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16989563-TGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16989568_16989570del , CM000663.2:g.16989568_16989570del	GRCh38
NC_000001.10:g.17316063_17316065del , CM000663.1:g.17316063_17316065del	GRCh37
NC_000001.9:g.17188650_17188652del	NCBI36
NG_009054.1:g.27363_27365del

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.2609+125_2609+127del MANE Select	ENSP00000327214.8:n.2609+125_2609+127del
ENST00000326735.12:c.2609+125_2609+127del	ENSP00000327214.8:n.2609+125_2609+127del
ENST00000341676.9:c.2477+125_2477+127del	ENSP00000341115.5:n.2477+125_2477+127del
ENST00000452699.5:c.2594+125_2594+127del	ENSP00000413307.1:n.2594+125_2594+127del
ENST00000466561.1:n.483+125_483+127del
ENST00000502418.1:c.197+125_197+127del	ENSP00000423065.1:n.197+125_197+127del
NM_001141973.2:c.2594+125_2594+127del	NP_001135445.1:n.2594+125_2594+127del
NM_001141974.2:c.2477+125_2477+127del	NP_001135446.1:n.2477+125_2477+127del
NM_022089.3:c.2609+125_2609+127del	NP_071372.1:n.2609+125_2609+127del
XM_005245809.1:c.2609+125_2609+127del	XP_005245866.1:n.2609+125_2609+127del
XM_005245810.1:c.2606+125_2606+127del	XP_005245867.1:n.2606+125_2606+127del
XM_005245811.1:c.2594+125_2594+127del	XP_005245868.1:n.2594+125_2594+127del
XM_005245812.1:c.2582+125_2582+127del	XP_005245869.1:n.2582+125_2582+127del
XM_005245813.1:c.2549+125_2549+127del	XP_005245870.1:n.2549+125_2549+127del
XM_005245815.1:c.2492+125_2492+127del	XP_005245872.1:n.2492+125_2492+127del
XM_006710512.1:c.2591+125_2591+127del	XP_006710575.1:n.2591+125_2591+127del
XM_006710513.1:c.2567+125_2567+127del	XP_006710576.1:n.2567+125_2567+127del
XM_011541128.1:c.2594+125_2594+127del	XP_011539430.1:n.2594+125_2594+127del
XM_011541129.1:c.2402+125_2402+127del	XP_011539431.1:n.2402+125_2402+127del
XM_017000844.1:c.2594+125_2594+127del	XP_016856333.1:n.2594+125_2594+127del
XM_017000845.1:c.2591+125_2591+127del	XP_016856334.1:n.2591+125_2591+127del
XM_017000846.1:c.2567+125_2567+127del	XP_016856335.1:n.2567+125_2567+127del
XM_017000847.1:c.2564+125_2564+127del	XP_016856336.1:n.2564+125_2564+127del
XM_017000848.1:c.2492+125_2492+127del	XP_016856337.1:n.2492+125_2492+127del
XM_017000849.1:c.2477+125_2477+127del	XP_016856338.1:n.2477+125_2477+127del
XM_017000850.1:c.2402+125_2402+127del	XP_016856339.1:n.2402+125_2402+127del
NM_022089.4:c.2609+125_2609+127del MANE Select	NP_071372.1:n.2609+125_2609+127del
NM_001141973.3:c.2594+125_2594+127del	NP_001135445.1:n.2594+125_2594+127del
NM_001141974.3:c.2477+125_2477+127del	NP_001135446.1:n.2477+125_2477+127del