Canonical Allele Identifier: CA2643673987

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16996440-TGATGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996442_16996446del , CM000663.2:g.16996442_16996446del	GRCh38
NC_000001.10:g.17322937_17322941del , CM000663.1:g.17322937_17322941del	GRCh37
NC_000001.9:g.17195524_17195528del	NCBI36
NG_009054.1:g.20484_20488del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1247_1251del MANE Select	ENSP00000327214.8:p.Pro416GlnfsTer6
ENST00000326735.12:c.1247_1251del	ENSP00000327214.8:p.Pro416GlnfsTer6
ENST00000341676.9:c.1232_1236del	ENSP00000341115.5:p.Pro411GlnfsTer6
ENST00000452699.5:c.1232_1236del	ENSP00000413307.1:p.Pro411GlnfsTer6
ENST00000463860.5:n.855_859del
ENST00000502860.1:n.335-145_335-141del
ENST00000506174.5:c.389_393del	ENSP00000424393.1:p.Pro130GlnfsTer6
ENST00000509392.1:n.250_254del
ENST00000617114.4:c.335-145_335-141del	ENSP00000478781.1:n.335-145_335-141del
NM_001141973.2:c.1232_1236del	NP_001135445.1:p.Pro411GlnfsTer6
NM_001141974.2:c.1232_1236del	NP_001135446.1:p.Pro411GlnfsTer6
NM_022089.3:c.1247_1251del	NP_071372.1:p.Pro416GlnfsTer6
XM_005245809.1:c.1247_1251del	XP_005245866.1:p.Pro416GlnfsTer6
XM_005245810.1:c.1244_1248del	XP_005245867.1:p.Pro415GlnfsTer6
XM_005245811.1:c.1232_1236del	XP_005245868.1:p.Pro411GlnfsTer6
XM_005245812.1:c.1220_1224del	XP_005245869.1:p.Pro407GlnfsTer6
XM_005245813.1:c.1247_1251del	XP_005245870.1:p.Pro416GlnfsTer6
XM_005245815.1:c.1247_1251del	XP_005245872.1:p.Pro416GlnfsTer6
XM_006710512.1:c.1229_1233del	XP_006710575.1:p.Pro410GlnfsTer6
XM_006710513.1:c.1205_1209del	XP_006710576.1:p.Pro402GlnfsTer6
XM_011541128.1:c.1247_1251del	XP_011539430.1:p.Pro416GlnfsTer6
XM_011541129.1:c.1247_1251del	XP_011539431.1:p.Pro416GlnfsTer6
XM_017000844.1:c.1247_1251del	XP_016856333.1:p.Pro416GlnfsTer6
XM_017000845.1:c.1229_1233del	XP_016856334.1:p.Pro410GlnfsTer6
XM_017000846.1:c.1205_1209del	XP_016856335.1:p.Pro402GlnfsTer6
XM_017000847.1:c.1217_1221del	XP_016856336.1:p.Pro406GlnfsTer6
XM_017000848.1:c.1247_1251del	XP_016856337.1:p.Pro416GlnfsTer6
XM_017000849.1:c.1232_1236del	XP_016856338.1:p.Pro411GlnfsTer6
XM_017000850.1:c.1247_1251del	XP_016856339.1:p.Pro416GlnfsTer6
NM_022089.4:c.1247_1251del MANE Select	NP_071372.1:p.Pro416GlnfsTer6
NM_001141973.3:c.1232_1236del	NP_001135445.1:p.Pro411GlnfsTer6
NM_001141974.3:c.1232_1236del	NP_001135446.1:p.Pro411GlnfsTer6