Canonical Allele Identifier: CA1227458834
Gene: SIPA1L2 HGNC NCBI

Linked Data

dbSNP Id: rs1662751870

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.232620615_232620620del , CM000663.2:g.232620615_232620620del GRCh38
NC_000001.10:g.232756361_232756366del , CM000663.1:g.232756361_232756366del GRCh37
NC_000001.9:g.230822984_230822989del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000674635.1:c.-319+9254_-319+9259del MANE Select ENSP00000502693.1:n.-319+9254_-319+9259del
ENST00000674749.1:c.-575+9254_-575+9259del ENSP00000502328.1:n.-575+9254_-575+9259del
ENST00000674801.1:c.-319+9815_-319+9820del ENSP00000502186.1:n.-319+9815_-319+9820del
ENST00000675407.1:c.-396+9254_-396+9259del ENSP00000502580.1:n.-396+9254_-396+9259del
ENST00000675685.1:c.-319+9815_-319+9820del ENSP00000501553.1:n.-319+9815_-319+9820del
ENST00000676213.1:c.-270+9815_-270+9820del ENSP00000501897.1:n.-270+9815_-270+9820del
XM_005273211.1:c.-319+9254_-319+9259del XP_005273268.1:n.-319+9254_-319+9259del
XM_005273212.3:c.-347+9254_-347+9259del XP_005273269.1:n.-347+9254_-347+9259del
XM_005273213.3:c.-270+9254_-270+9259del XP_005273270.1:n.-270+9254_-270+9259del
XM_006711798.2:c.-413+9254_-413+9259del XP_006711861.1:n.-413+9254_-413+9259del
XM_011544242.1:c.-490+9254_-490+9259del XP_011542544.1:n.-490+9254_-490+9259del
XM_011544243.1:c.-396+9254_-396+9259del XP_011542545.1:n.-396+9254_-396+9259del
XM_011544244.1:c.-270+9815_-270+9820del XP_011542546.1:n.-270+9815_-270+9820del
XM_011544245.1:c.-490+9254_-490+9259del XP_011542547.1:n.-490+9254_-490+9259del
XM_005273211.2:c.-319+9254_-319+9259del XP_005273268.1:n.-319+9254_-319+9259del
XM_005273212.4:c.-347+9254_-347+9259del XP_005273269.1:n.-347+9254_-347+9259del
XM_005273213.4:c.-270+9254_-270+9259del XP_005273270.1:n.-270+9254_-270+9259del
XM_011544243.2:c.-396+9254_-396+9259del XP_011542545.1:n.-396+9254_-396+9259del
XM_017001896.1:c.-319+9815_-319+9820del XP_016857385.1:n.-319+9815_-319+9820del
XM_017001897.2:c.-319+9254_-319+9259del XP_016857386.1:n.-319+9254_-319+9259del
XM_017001898.2:c.-319+9815_-319+9820del XP_016857387.1:n.-319+9815_-319+9820del
NM_001377488.1:c.-319+9815_-319+9820del NP_001364417.1:n.-319+9815_-319+9820del
NM_020808.5:c.-319+9254_-319+9259del MANE Select NP_065859.3:n.-319+9254_-319+9259del