Canonical Allele Identifier: CA2573053581
Community Standard Title: NM_017988.6(SCYL2):c.97del (p.Asp33MetfsTer13)
Gene: SCYL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.100283067del , CM000674.2:g.100283067del GRCh38
NC_000012.11:g.100676845del , CM000674.1:g.100676845del GRCh37
NC_000012.10:g.99200976del NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_017988.6:c.97del MANE Select NP_060458.3:p.Asp33MetfsTer13
ENST00000360820.7:c.97del MANE Select ENSP00000354061.2:p.Asp33MetfsTer13
NM_001317784.1:c.97del NP_001304713.1:p.Asp33MetfsTer13
NM_001317784.2:c.97del NP_001304713.1:p.Asp33MetfsTer13
NM_001330253.1:c.97del NP_001317182.1:p.Asp33MetfsTer13
NM_001330253.2:c.97del NP_001317182.1:p.Asp33MetfsTer13
NM_001330254.1:c.97del NP_001317183.1:p.Asp33MetfsTer13
NM_001330254.2:c.97del NP_001317183.1:p.Asp33MetfsTer13
NM_001330256.1:c.-559del NP_001317185.1:n.-559del
NM_001330256.2:c.-559del NP_001317185.1:n.-559del
NM_017988.4:c.97del NP_060458.3:p.Asp33MetfsTer13
NM_017988.5:c.97del NP_060458.3:p.Asp33MetfsTer13
ENST00000360820.6:c.97del ENSP00000354061.2:p.Asp33MetfsTer13
ENST00000548392.5:c.-342-8436del ENSP00000450294.1:n.-342-8436del
ENST00000549687.5:c.97del ENSP00000448366.1:p.Asp33MetfsTer13
ENST00000550067.1:n.273del
ENST00000635101.1:c.97del ENSP00000489123.1:p.Asp33MetfsTer13
XM_005269018.2:c.97del XP_005269075.1:p.Asp33MetfsTer13
XM_011538559.1:c.-559del XP_011536861.1:n.-559del
XM_011538560.1:c.97del XP_011536862.1:p.Asp33MetfsTer13