Canonical Allele Identifier: CA10603176
Community Standard Title: NM_170665.4(ATP2A2):c.291_292del (p.Leu98SerfsTer15)
Gene: ATP2A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110292091_110292092del , CM000674.2:g.110292091_110292092del GRCh38
NC_000012.11:g.110729896_110729897del , CM000674.1:g.110729896_110729897del GRCh37
NC_000012.10:g.109214279_109214280del NCBI36
NG_007097.2:g.15465_15466del

Transcript Alleles

HGVS Amino-acid Change
NM_170665.4:c.291_292del MANE Select NP_733765.1:p.Leu98SerfsTer15
ENST00000539276.7:c.291_292del MANE Select ENSP00000440045.2:p.Leu98SerfsTer15
NM_001681.3:c.291_292del NP_001672.1:p.Leu98SerfsTer15
NM_001681.4:c.291_292del NP_001672.1:p.Leu98SerfsTer15
NM_170665.3:c.291_292del NP_733765.1:p.Leu98SerfsTer15
ENST00000308664.10:c.291_292del ENSP00000311186.6:p.Leu98SerfsTer15
ENST00000377685.9:c.*131_*132del ENSP00000366913.4:n.*131_*132del
ENST00000539276.6:c.291_292del ENSP00000440045.2:p.Leu98SerfsTer15
ENST00000548169.2:c.43_44del
ENST00000552636.1:c.-11_-10del ENSP00000447406.1:n.-11_-10del
ENST00000552636.2:c.-85_-84del ENSP00000447406.2:n.-85_-84del
XM_005253888.1:c.291_292del XP_005253945.1:p.Leu98SerfsTer15
XM_005253888.3:c.291_292del XP_005253945.1:p.Leu98SerfsTer15
XM_011538402.1:c.291_292del XP_011536704.1:p.Leu98SerfsTer15
XM_011538402.3:c.291_292del XP_011536704.1:p.Leu98SerfsTer15
XM_011538403.1:c.291_292del XP_011536705.1:p.Leu98SerfsTer15
XR_002957329.1:n.297_298del
XR_243009.1:n.297_298del
XR_243009.3:n.297_298del