Canonical Allele Identifier: CA2576616815

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10223781del , CM000681.2:g.10223781del GRCh38
NC_000019.9:g.10334457del , CM000681.1:g.10334457del GRCh37
NC_000019.8:g.10195457del NCBI36
NG_028016.3:g.12509del , LRG_362:g.12509del
NG_046802.1:g.13030del

Transcript Alleles

HGVS Amino-acid Change
ENST00000646641.1:c.*66del (S1PR2) MANE Select ENSP00000496438.1:n.*66del
ENST00000588952.5:c.-401-4909del (DNMT1) ENSP00000467050.1:n.-401-4909del
ENST00000590320.2:c.*66del (S1PR2) ENSP00000466933.1:n.*66del
ENST00000592342.5:c.-284+7426del (DNMT1) ENSP00000465993.1:n.-284+7426del
NM_004230.3:c.*66del (S1PR2) NP_004221.3:n.*66del
XM_011528425.1:c.894+234del (S1PR2) XP_011526727.1:n.894+234del
NM_004230.4:c.*66del (S1PR2) MANE Select NP_004221.3:n.*66del