Canonical Allele Identifier: CA890931477

Gene: ATP13A2

Linked Data

• dbSNP Id: rs1191859998
• gnomAD v3: 1-16989586-G-GTC
• gnomAD v4: 1-16989586-G-GTC
• MyVariant Identifiers: chr1:g.17316081_17316082insTC (hg19) ; chr1:g.16989586_16989587insTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16989587_16989588insCT , CM000663.2:g.16989587_16989588insCT	GRCh38
NC_000001.10:g.17316082_17316083insCT , CM000663.1:g.17316082_17316083insCT	GRCh37
NC_000001.9:g.17188669_17188670insCT	NCBI36
NG_009054.1:g.27342_27343insGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.2609+104_2609+105insGA MANE Select	ENSP00000327214.8:n.2609+104_2609+105insG...
ENST00000326735.12:c.2609+104_2609+105insGA	ENSP00000327214.8:n.2609+104_2609+105insG...
ENST00000341676.9:c.2477+104_2477+105insGA	ENSP00000341115.5:n.2477+104_2477+105insG...
ENST00000452699.5:c.2594+104_2594+105insGA	ENSP00000413307.1:n.2594+104_2594+105insG...
ENST00000466561.1:n.483+104_483+105insGA
ENST00000502418.1:c.197+104_197+105insGA	ENSP00000423065.1:n.197+104_197+105insGA
NM_001141973.2:c.2594+104_2594+105insGA	NP_001135445.1:n.2594+104_2594+105insGA
NM_001141974.2:c.2477+104_2477+105insGA	NP_001135446.1:n.2477+104_2477+105insGA
NM_022089.3:c.2609+104_2609+105insGA	NP_071372.1:n.2609+104_2609+105insGA
XM_005245809.1:c.2609+104_2609+105insGA	XP_005245866.1:n.2609+104_2609+105insGA
XM_005245810.1:c.2606+104_2606+105insGA	XP_005245867.1:n.2606+104_2606+105insGA
XM_005245811.1:c.2594+104_2594+105insGA	XP_005245868.1:n.2594+104_2594+105insGA
XM_005245812.1:c.2582+104_2582+105insGA	XP_005245869.1:n.2582+104_2582+105insGA
XM_005245813.1:c.2549+104_2549+105insGA	XP_005245870.1:n.2549+104_2549+105insGA
XM_005245815.1:c.2492+104_2492+105insGA	XP_005245872.1:n.2492+104_2492+105insGA
XM_006710512.1:c.2591+104_2591+105insGA	XP_006710575.1:n.2591+104_2591+105insGA
XM_006710513.1:c.2567+104_2567+105insGA	XP_006710576.1:n.2567+104_2567+105insGA
XM_011541128.1:c.2594+104_2594+105insGA	XP_011539430.1:n.2594+104_2594+105insGA
XM_011541129.1:c.2402+104_2402+105insGA	XP_011539431.1:n.2402+104_2402+105insGA
XM_017000844.1:c.2594+104_2594+105insGA	XP_016856333.1:n.2594+104_2594+105insGA
XM_017000845.1:c.2591+104_2591+105insGA	XP_016856334.1:n.2591+104_2591+105insGA
XM_017000846.1:c.2567+104_2567+105insGA	XP_016856335.1:n.2567+104_2567+105insGA
XM_017000847.1:c.2564+104_2564+105insGA	XP_016856336.1:n.2564+104_2564+105insGA
XM_017000848.1:c.2492+104_2492+105insGA	XP_016856337.1:n.2492+104_2492+105insGA
XM_017000849.1:c.2477+104_2477+105insGA	XP_016856338.1:n.2477+104_2477+105insGA
XM_017000850.1:c.2402+104_2402+105insGA	XP_016856339.1:n.2402+104_2402+105insGA
NM_022089.4:c.2609+104_2609+105insGA MANE Select	NP_071372.1:n.2609+104_2609+105insGA
NM_001141973.3:c.2594+104_2594+105insGA	NP_001135445.1:n.2594+104_2594+105insGA
NM_001141974.3:c.2477+104_2477+105insGA	NP_001135446.1:n.2477+104_2477+105insGA