Canonical Allele Identifier: CA2580085595
Community Standard Title: NM_017988.6(SCYL2):c.214_234del (p.Asp72_Glu78del)
Gene: SCYL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.100291539_100291559del , CM000674.2:g.100291539_100291559del GRCh38
NC_000012.11:g.100685317_100685337del , CM000674.1:g.100685317_100685337del GRCh37
NC_000012.10:g.99209448_99209468del NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_017988.6:c.214_234del MANE Select NP_060458.3:p.Asp72_Glu78del
ENST00000360820.7:c.214_234del MANE Select ENSP00000354061.2:p.Asp72_Glu78del
NM_001317784.1:c.214_234del NP_001304713.1:p.Asp72_Glu78del
NM_001317784.2:c.214_234del NP_001304713.1:p.Asp72_Glu78del
NM_001330253.1:c.214_234del NP_001317182.1:p.Asp72_Glu78del
NM_001330253.2:c.214_234del NP_001317182.1:p.Asp72_Glu78del
NM_001330254.1:c.214_234del NP_001317183.1:p.Asp72_Glu78del
NM_001330254.2:c.214_234del NP_001317183.1:p.Asp72_Glu78del
NM_001330256.1:c.-442_-422del NP_001317185.1:n.-442_-422del
NM_001330256.2:c.-442_-422del NP_001317185.1:n.-442_-422del
NM_017988.4:c.214_234del NP_060458.3:p.Asp72_Glu78del
NM_017988.5:c.214_234del NP_060458.3:p.Asp72_Glu78del
ENST00000360820.6:c.214_234del ENSP00000354061.2:p.Asp72_Glu78del
ENST00000548392.5:c.-306_-286del ENSP00000450294.1:n.-306_-286del
ENST00000549486.1:n.53_73del
ENST00000549687.5:c.214_234del ENSP00000448366.1:p.Asp72_Glu78del
ENST00000550067.1:n.390_410del
ENST00000635101.1:c.214_234del ENSP00000489123.1:p.Asp72_Glu78del
XM_005269018.2:c.214_234del XP_005269075.1:p.Asp72_Glu78del
XM_011538559.1:c.-442_-422del XP_011536861.1:n.-442_-422del
XM_011538560.1:c.214_234del XP_011536862.1:p.Asp72_Glu78del