Canonical Allele Identifier: CA2687964278

Gene: INTS8

Linked Data

• gnomAD v4: 8-94827776-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.94827781del , CM000670.2:g.94827781del	GRCh38
NC_000008.10:g.95840009del , CM000670.1:g.95840009del	GRCh37
NC_000008.9:g.95909185del	NCBI36
NG_047163.1:g.19471del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000523731.6:c.506del MANE Select	ENSP00000430338.1:p.Pro169LeufsTer3
ENST00000343161.8:c.506del	ENSP00000343274.4:p.Pro169LeufsTer3
ENST00000519053.5:c.179del	ENSP00000429056.1:p.Pro60LeufsTer3
ENST00000519457.5:c.365del	ENSP00000428260.1:p.Pro122LeufsTer3
ENST00000521860.5:c.468del
ENST00000522171.5:c.383del	ENSP00000429340.1:p.Pro128LeufsTer3
ENST00000523206.5:c.506del	ENSP00000429452.1:p.Pro169LeufsTer3
ENST00000523321.5:n.631del
ENST00000523731.5:c.506del	ENSP00000430338.1:p.Pro169LeufsTer3
ENST00000524333.5:c.506del	ENSP00000427840.1:p.Pro169LeufsTer3
NM_017864.3:c.506del	NP_060334.2:p.Pro169LeufsTer3
NR_073444.1:n.648del
NR_073445.1:n.648del
XM_006716602.2:c.506del	XP_006716665.1:p.Pro169LeufsTer3
XM_006716603.2:c.179del	XP_006716666.1:p.Pro60LeufsTer3
XM_011517155.1:c.383del	XP_011515457.1:p.Pro128LeufsTer3
XM_011517156.1:c.506del	XP_011515458.1:p.Pro169LeufsTer3
XM_011517157.1:c.179del	XP_011515459.1:p.Pro60LeufsTer3
XM_017013616.1:c.506del	XP_016869105.1:p.Pro169LeufsTer3
XM_017013617.1:c.506del	XP_016869106.1:p.Pro169LeufsTer3
XM_017013618.1:c.179del	XP_016869107.1:p.Pro60LeufsTer3
XM_017013619.1:c.-778del	XP_016869108.1:n.-778del
NM_017864.4:c.506del MANE Select	NP_060334.2:p.Pro169LeufsTer3
NR_073444.2:n.651del
NR_073445.2:n.651del