Canonical Allele Identifier: CA2643670874

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16986714-C-CTCTCCCATCT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986714_16986715insTCTCCCATCT , CM000663.2:g.16986714_16986715insTCTCCCATCT	GRCh38
NC_000001.10:g.17313209_17313210insTCTCCCATCT , CM000663.1:g.17313209_17313210insTCTCCCATCT	GRCh37
NC_000001.9:g.17185796_17185797insTCTCCCATCT	NCBI36
NG_009054.1:g.30214_30215insAGATGGGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3236-83_3236-82insAGATGGGAGA MANE Select	ENSP00000327214.8:n.3236-83_3236-82insAGATGGGAGA
ENST00000326735.12:c.3236-83_3236-82insAGATGGGAGA	ENSP00000327214.8:n.3236-83_3236-82insAGATGGGAGA
ENST00000341676.9:c.3103+90_3103+91insAGATGGGAGA	ENSP00000341115.5:n.3103+90_3103+91insAGATGGGAGA
ENST00000452699.5:c.3221-83_3221-82insAGATGGGAGA	ENSP00000413307.1:n.3221-83_3221-82insAGATGGGAGA
ENST00000466561.1:n.1199_1200insAGATGGGAGA
ENST00000502418.1:c.823+90_823+91insAGATGGGAGA	ENSP00000423065.1:n.823+90_823+91insAGATGGGAGA
NM_001141973.2:c.3221-83_3221-82insAGATGGGAGA	NP_001135445.1:n.3221-83_3221-82insAGATGGGAGA
NM_001141974.2:c.3103+90_3103+91insAGATGGGAGA	NP_001135446.1:n.3103+90_3103+91insAGATGGGAGA
NM_022089.3:c.3236-83_3236-82insAGATGGGAGA	NP_071372.1:n.3236-83_3236-82insAGATGGGAGA
XM_005245809.1:c.3235+90_3235+91insAGATGGGAGA	XP_005245866.1:n.3235+90_3235+91insAGATGGGAGA
XM_005245810.1:c.3232+90_3232+91insAGATGGGAGA	XP_005245867.1:n.3232+90_3232+91insAGATGGGAGA
XM_005245811.1:c.3220+90_3220+91insAGATGGGAGA	XP_005245868.1:n.3220+90_3220+91insAGATGGGAGA
XM_005245812.1:c.3208+90_3208+91insAGATGGGAGA	XP_005245869.1:n.3208+90_3208+91insAGATGGGAGA
XM_005245813.1:c.3175+90_3175+91insAGATGGGAGA	XP_005245870.1:n.3175+90_3175+91insAGATGGGAGA
XM_005245815.1:c.3118+90_3118+91insAGATGGGAGA	XP_005245872.1:n.3118+90_3118+91insAGATGGGAGA
XM_006710512.1:c.3217+90_3217+91insAGATGGGAGA	XP_006710575.1:n.3217+90_3217+91insAGATGGGAGA
XM_006710513.1:c.3193+90_3193+91insAGATGGGAGA	XP_006710576.1:n.3193+90_3193+91insAGATGGGAGA
XM_011541128.1:c.3220+90_3220+91insAGATGGGAGA	XP_011539430.1:n.3220+90_3220+91insAGATGGGAGA
XM_011541129.1:c.3028+90_3028+91insAGATGGGAGA	XP_011539431.1:n.3028+90_3028+91insAGATGGGAGA
XM_017000844.1:c.3221-83_3221-82insAGATGGGAGA	XP_016856333.1:n.3221-83_3221-82insAGATGGGAGA
XM_017000845.1:c.3218-83_3218-82insAGATGGGAGA	XP_016856334.1:n.3218-83_3218-82insAGATGGGAGA
XM_017000846.1:c.3194-83_3194-82insAGATGGGAGA	XP_016856335.1:n.3194-83_3194-82insAGATGGGAGA
XM_017000847.1:c.3191-83_3191-82insAGATGGGAGA	XP_016856336.1:n.3191-83_3191-82insAGATGGGAGA
XM_017000848.1:c.3119-83_3119-82insAGATGGGAGA	XP_016856337.1:n.3119-83_3119-82insAGATGGGAGA
XM_017000849.1:c.3104-83_3104-82insAGATGGGAGA	XP_016856338.1:n.3104-83_3104-82insAGATGGGAGA
XM_017000850.1:c.3029-83_3029-82insAGATGGGAGA	XP_016856339.1:n.3029-83_3029-82insAGATGGGAGA
NM_022089.4:c.3236-83_3236-82insAGATGGGAGA MANE Select	NP_071372.1:n.3236-83_3236-82insAGATGGGAGA
NM_001141973.3:c.3221-83_3221-82insAGATGGGAGA	NP_001135445.1:n.3221-83_3221-82insAGATGGGAGA
NM_001141974.3:c.3103+90_3103+91insAGATGGGAGA	NP_001135446.1:n.3103+90_3103+91insAGATGGGAGA