Canonical Allele Identifier: CA1139770196

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10223949_10223951del , CM000681.2:g.10223949_10223951del GRCh38
NC_000019.9:g.10334625_10334627del , CM000681.1:g.10334625_10334627del GRCh37
NC_000019.8:g.10195625_10195627del NCBI36
NG_028016.3:g.12336_12338del , LRG_362:g.12336_12338del
NG_046802.1:g.12857_12859del

Transcript Alleles

HGVS Amino-acid Change
ENST00000646641.1:c.955_957del (S1PR2) MANE Select ENSP00000496438.1:p.Gly319del
ENST00000588952.5:c.-401-5082_-401-5080del (DNMT1) ENSP00000467050.1:n.-401-5082_-401-5080del
ENST00000590320.2:c.955_957del (S1PR2) ENSP00000466933.1:p.Gly319del
ENST00000592342.5:c.-284+7253_-284+7255del (DNMT1) ENSP00000465993.1:n.-284+7253_-284+7255del
NM_004230.3:c.955_957del (S1PR2) NP_004221.3:p.Gly319del
XM_011528425.1:c.894+61_894+63del (S1PR2) XP_011526727.1:n.894+61_894+63del
NM_004230.4:c.955_957del (S1PR2) MANE Select NP_004221.3:p.Gly319del