Canonical Allele Identifier: CA1803689448
Gene: INTS8 HGNC NCBI

Linked Data

dbSNP Id: rs1814571318

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.94827920_94827921insGGGC , CM000670.2:g.94827920_94827921insGGGC GRCh38
NC_000008.10:g.95840148_95840149insGGGC , CM000670.1:g.95840148_95840149insGGGC GRCh37
NC_000008.9:g.95909324_95909325insGGGC NCBI36
NG_047163.1:g.19610_19611insGGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000523731.6:c.518+127_518+128insGGGC MANE Select ENSP00000430338.1:n.518+127_518+128insGGGC
ENST00000343161.8:c.518+127_518+128insGGGC ENSP00000343274.4:n.518+127_518+128insGGGC
ENST00000519053.5:c.191+127_191+128insGGGC ENSP00000429056.1:n.191+127_191+128insGGGC
ENST00000519457.5:c.377+127_377+128insGGGC ENSP00000428260.1:n.377+127_377+128insGGGC
ENST00000521860.5:c.480+127_480+128insGGGC
ENST00000522171.5:c.395+127_395+128insGGGC ENSP00000429340.1:n.395+127_395+128insGGGC
ENST00000523206.5:c.518+127_518+128insGGGC ENSP00000429452.1:n.518+127_518+128insGGGC
ENST00000523321.5:n.643+127_643+128insGGGC
ENST00000523731.5:c.518+127_518+128insGGGC ENSP00000430338.1:n.518+127_518+128insGGGC
ENST00000524333.5:c.518+127_518+128insGGGC ENSP00000427840.1:n.518+127_518+128insGGGC
NM_017864.3:c.518+127_518+128insGGGC NP_060334.2:n.518+127_518+128insGGGC
NR_073444.1:n.660+127_660+128insGGGC
NR_073445.1:n.660+127_660+128insGGGC
XM_006716602.2:c.518+127_518+128insGGGC XP_006716665.1:n.518+127_518+128insGGGC
XM_006716603.2:c.191+127_191+128insGGGC XP_006716666.1:n.191+127_191+128insGGGC
XM_011517155.1:c.395+127_395+128insGGGC XP_011515457.1:n.395+127_395+128insGGGC
XM_011517156.1:c.518+127_518+128insGGGC XP_011515458.1:n.518+127_518+128insGGGC
XM_011517157.1:c.191+127_191+128insGGGC XP_011515459.1:n.191+127_191+128insGGGC
XM_017013616.1:c.518+127_518+128insGGGC XP_016869105.1:n.518+127_518+128insGGGC
XM_017013617.1:c.518+127_518+128insGGGC XP_016869106.1:n.518+127_518+128insGGGC
XM_017013618.1:c.191+127_191+128insGGGC XP_016869107.1:n.191+127_191+128insGGGC
XM_017013619.1:c.-766+127_-766+128insGGGC XP_016869108.1:n.-766+127_-766+128insGGGC
NM_017864.4:c.518+127_518+128insGGGC MANE Select NP_060334.2:n.518+127_518+128insGGGC
NR_073444.2:n.663+127_663+128insGGGC
NR_073445.2:n.663+127_663+128insGGGC