Canonical Allele Identifier: CA2643669184

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16986415-CCCCCACCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986419_16986426del , CM000663.2:g.16986419_16986426del	GRCh38
NC_000001.10:g.17312914_17312921del , CM000663.1:g.17312914_17312921del	GRCh37
NC_000001.9:g.17185501_17185508del	NCBI36
NG_009054.1:g.30506_30513del
NG_029688.1:g.164_171del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3405+40_3405+47del MANE Select	ENSP00000327214.8:n.3405+40_3405+47del
ENST00000326735.12:c.3405+40_3405+47del	ENSP00000327214.8:n.3405+40_3405+47del
ENST00000341676.9:c.3104-65_3104-58del	ENSP00000341115.5:n.3104-65_3104-58del
ENST00000452699.5:c.3390+40_3390+47del	ENSP00000413307.1:n.3390+40_3390+47del
ENST00000466561.1:n.1451+40_1451+47del
ENST00000502418.1:c.824-65_824-58del	ENSP00000423065.1:n.824-65_824-58del
NM_001141973.2:c.3390+40_3390+47del	NP_001135445.1:n.3390+40_3390+47del
NM_001141974.2:c.3104-65_3104-58del	NP_001135446.1:n.3104-65_3104-58del
NM_022089.3:c.3405+40_3405+47del	NP_071372.1:n.3405+40_3405+47del
XM_005245809.1:c.3236-65_3236-58del	XP_005245866.1:n.3236-65_3236-58del
XM_005245810.1:c.3233-65_3233-58del	XP_005245867.1:n.3233-65_3233-58del
XM_005245811.1:c.3221-65_3221-58del	XP_005245868.1:n.3221-65_3221-58del
XM_005245812.1:c.3209-65_3209-58del	XP_005245869.1:n.3209-65_3209-58del
XM_005245813.1:c.3176-65_3176-58del	XP_005245870.1:n.3176-65_3176-58del
XM_005245815.1:c.3119-65_3119-58del	XP_005245872.1:n.3119-65_3119-58del
XM_006710512.1:c.3218-65_3218-58del	XP_006710575.1:n.3218-65_3218-58del
XM_006710513.1:c.3194-65_3194-58del	XP_006710576.1:n.3194-65_3194-58del
XM_011541128.1:c.3221-65_3221-58del	XP_011539430.1:n.3221-65_3221-58del
XM_011541129.1:c.3029-65_3029-58del	XP_011539431.1:n.3029-65_3029-58del
XM_017000844.1:c.3390+40_3390+47del	XP_016856333.1:n.3390+40_3390+47del
XM_017000845.1:c.3387+40_3387+47del	XP_016856334.1:n.3387+40_3387+47del
XM_017000846.1:c.3363+40_3363+47del	XP_016856335.1:n.3363+40_3363+47del
XM_017000847.1:c.3360+40_3360+47del	XP_016856336.1:n.3360+40_3360+47del
XM_017000848.1:c.3288+40_3288+47del	XP_016856337.1:n.3288+40_3288+47del
XM_017000849.1:c.3273+40_3273+47del	XP_016856338.1:n.3273+40_3273+47del
XM_017000850.1:c.3198+40_3198+47del	XP_016856339.1:n.3198+40_3198+47del
NM_022089.4:c.3405+40_3405+47del MANE Select	NP_071372.1:n.3405+40_3405+47del
NM_001141973.3:c.3390+40_3390+47del	NP_001135445.1:n.3390+40_3390+47del
NM_001141974.3:c.3104-65_3104-58del	NP_001135446.1:n.3104-65_3104-58del