Canonical Allele Identifier: CA645512534

Gene: ATP13A2

Linked Data

• COSMIC: COSM5730200 ; COSM5730201

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986856_16986878del , CM000663.2:g.16986856_16986878del	GRCh38
NC_000001.10:g.17313351_17313373del , CM000663.1:g.17313351_17313373del	GRCh37
NC_000001.9:g.17185938_17185960del	NCBI36
NG_009054.1:g.30052_30074del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3163_3185del MANE Select	ENSP00000327214.8:p.Ser1055CysfsTer?
ENST00000326735.12:c.3163_3185del	ENSP00000327214.8:p.Ser1055CysfsTer?
ENST00000341676.9:c.3031_3053del	ENSP00000341115.5:p.Ser1011CysfsTer17
ENST00000452699.5:c.3148_3170del	ENSP00000413307.1:p.Ser1050CysfsTer?
ENST00000466561.1:n.1037_1059del
ENST00000502418.1:c.751_773del	ENSP00000423065.1:p.Ser251CysfsTer17
NM_001141973.2:c.3148_3170del	NP_001135445.1:p.Ser1050CysfsTer?
NM_001141974.2:c.3031_3053del	NP_001135446.1:p.Ser1011CysfsTer17
NM_022089.3:c.3163_3185del	NP_071372.1:p.Ser1055CysfsTer?
XM_005245809.1:c.3163_3185del	XP_005245866.1:p.Ser1055CysfsTer17
XM_005245810.1:c.3160_3182del	XP_005245867.1:p.Ser1054CysfsTer17
XM_005245811.1:c.3148_3170del	XP_005245868.1:p.Ser1050CysfsTer17
XM_005245812.1:c.3136_3158del	XP_005245869.1:p.Ser1046CysfsTer17
XM_005245813.1:c.3103_3125del	XP_005245870.1:p.Ser1035CysfsTer17
XM_005245815.1:c.3046_3068del	XP_005245872.1:p.Ser1016CysfsTer17
XM_006710512.1:c.3145_3167del	XP_006710575.1:p.Ser1049CysfsTer17
XM_006710513.1:c.3121_3143del	XP_006710576.1:p.Ser1041CysfsTer17
XM_011541128.1:c.3148_3170del	XP_011539430.1:p.Ser1050CysfsTer17
XM_011541129.1:c.2956_2978del	XP_011539431.1:p.Ser986CysfsTer17
XM_017000844.1:c.3148_3170del	XP_016856333.1:p.Ser1050CysfsTer?
XM_017000845.1:c.3145_3167del	XP_016856334.1:p.Ser1049CysfsTer?
XM_017000846.1:c.3121_3143del	XP_016856335.1:p.Ser1041CysfsTer?
XM_017000847.1:c.3118_3140del	XP_016856336.1:p.Ser1040CysfsTer?
XM_017000848.1:c.3046_3068del	XP_016856337.1:p.Ser1016CysfsTer?
XM_017000849.1:c.3031_3053del	XP_016856338.1:p.Ser1011CysfsTer?
XM_017000850.1:c.2956_2978del	XP_016856339.1:p.Ser986CysfsTer?
NM_022089.4:c.3163_3185del MANE Select	NP_071372.1:p.Ser1055CysfsTer?
NM_001141973.3:c.3148_3170del	NP_001135445.1:p.Ser1050CysfsTer?
NM_001141974.3:c.3031_3053del	NP_001135446.1:p.Ser1011CysfsTer17