Canonical Allele Identifier: CA10640192
Gene: ATP2A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110351083_110351087del , CM000674.2:g.110351083_110351087del GRCh38
NC_000012.11:g.110788888_110788892del , CM000674.1:g.110788888_110788892del GRCh37
NC_000012.10:g.109273271_109273275del NCBI36
NG_007097.2:g.74457_74461del

Transcript Alleles

HGVS Amino-acid Change
ENST00000539276.7:c.*4613_*4617del MANE Select ENSP00000440045.2:n.*4613_*4617del
ENST00000308664.10:c.*778_*782del ENSP00000311186.6:n.*778_*782del
ENST00000313432.5:n.5565_5569del
NM_001681.3:c.*778_*782del NP_001672.1:n.*778_*782del
NM_170665.3:c.*4613_*4617del NP_733765.1:n.*4613_*4617del
XM_005253888.1:c.*833_*837del XP_005253945.1:n.*833_*837del
XR_243009.1:n.4177_4181del
XR_002957329.1:n.5248_5252del
XR_243009.3:n.4177_4181del
NM_170665.4:c.*4613_*4617del MANE Select NP_733765.1:n.*4613_*4617del
NM_001681.4:c.*778_*782del NP_001672.1:n.*778_*782del