Canonical Allele Identifier: CA2687964182

Gene: INTS8

Linked Data

• gnomAD v4: 8-94827539-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.94827539_94827540insT , CM000670.2:g.94827539_94827540insT	GRCh38
NC_000008.10:g.95839767_95839768insT , CM000670.1:g.95839767_95839768insT	GRCh37
NC_000008.9:g.95908943_95908944insT	NCBI36
NG_047163.1:g.19229_19230insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000523731.6:c.446+136_446+137insT MANE Select	ENSP00000430338.1:n.446+136_446+137insT
ENST00000343161.8:c.446+136_446+137insT	ENSP00000343274.4:n.446+136_446+137insT
ENST00000519053.5:c.119+136_119+137insT	ENSP00000429056.1:n.119+136_119+137insT
ENST00000519457.5:c.306-183_306-182insT	ENSP00000428260.1:n.306-183_306-182insT
ENST00000521860.5:c.408+136_408+137insT
ENST00000522171.5:c.323+136_323+137insT	ENSP00000429340.1:n.323+136_323+137insT
ENST00000523206.5:c.446+136_446+137insT	ENSP00000429452.1:n.446+136_446+137insT
ENST00000523321.5:n.571+136_571+137insT
ENST00000523731.5:c.446+136_446+137insT	ENSP00000430338.1:n.446+136_446+137insT
ENST00000524333.5:c.446+136_446+137insT	ENSP00000427840.1:n.446+136_446+137insT
NM_017864.3:c.446+136_446+137insT	NP_060334.2:n.446+136_446+137insT
NR_073444.1:n.588+136_588+137insT
NR_073445.1:n.588+136_588+137insT
XM_006716602.2:c.446+136_446+137insT	XP_006716665.1:n.446+136_446+137insT
XM_006716603.2:c.119+136_119+137insT	XP_006716666.1:n.119+136_119+137insT
XM_011517155.1:c.323+136_323+137insT	XP_011515457.1:n.323+136_323+137insT
XM_011517156.1:c.446+136_446+137insT	XP_011515458.1:n.446+136_446+137insT
XM_011517157.1:c.119+136_119+137insT	XP_011515459.1:n.119+136_119+137insT
XM_017013616.1:c.446+136_446+137insT	XP_016869105.1:n.446+136_446+137insT
XM_017013617.1:c.446+136_446+137insT	XP_016869106.1:n.446+136_446+137insT
XM_017013618.1:c.119+136_119+137insT	XP_016869107.1:n.119+136_119+137insT
XM_017013619.1:c.-838+136_-838+137insT	XP_016869108.1:n.-838+136_-838+137insT
NM_017864.4:c.446+136_446+137insT MANE Select	NP_060334.2:n.446+136_446+137insT
NR_073444.2:n.591+136_591+137insT
NR_073445.2:n.591+136_591+137insT