Canonical Allele Identifier: CA857153280

Gene: INTS8

Linked Data

• dbSNP Id: rs1388779786
• gnomAD v3: 8-94827473-ATTC-A
• gnomAD v4: 8-94827473-ATTC-A
• MyVariant Identifiers: chr8:g.95839702_95839704del (hg19) ; chr8:g.94827474_94827476del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.94827476_94827478del , CM000670.2:g.94827476_94827478del	GRCh38
NC_000008.10:g.95839704_95839706del , CM000670.1:g.95839704_95839706del	GRCh37
NC_000008.9:g.95908880_95908882del	NCBI36
NG_047163.1:g.19166_19168del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000523731.6:c.446+73_446+75del MANE Select	ENSP00000430338.1:n.446+73_446+75del
ENST00000343161.8:c.446+73_446+75del	ENSP00000343274.4:n.446+73_446+75del
ENST00000519053.5:c.119+73_119+75del	ENSP00000429056.1:n.119+73_119+75del
ENST00000519457.5:c.306-246_306-244del	ENSP00000428260.1:n.306-246_306-244del
ENST00000521860.5:c.408+73_408+75del
ENST00000522171.5:c.323+73_323+75del	ENSP00000429340.1:n.323+73_323+75del
ENST00000523206.5:c.446+73_446+75del	ENSP00000429452.1:n.446+73_446+75del
ENST00000523321.5:n.571+73_571+75del
ENST00000523731.5:c.446+73_446+75del	ENSP00000430338.1:n.446+73_446+75del
ENST00000524333.5:c.446+73_446+75del	ENSP00000427840.1:n.446+73_446+75del
NM_017864.3:c.446+73_446+75del	NP_060334.2:n.446+73_446+75del
NR_073444.1:n.588+73_588+75del
NR_073445.1:n.588+73_588+75del
XM_006716602.2:c.446+73_446+75del	XP_006716665.1:n.446+73_446+75del
XM_006716603.2:c.119+73_119+75del	XP_006716666.1:n.119+73_119+75del
XM_011517155.1:c.323+73_323+75del	XP_011515457.1:n.323+73_323+75del
XM_011517156.1:c.446+73_446+75del	XP_011515458.1:n.446+73_446+75del
XM_011517157.1:c.119+73_119+75del	XP_011515459.1:n.119+73_119+75del
XM_017013616.1:c.446+73_446+75del	XP_016869105.1:n.446+73_446+75del
XM_017013617.1:c.446+73_446+75del	XP_016869106.1:n.446+73_446+75del
XM_017013618.1:c.119+73_119+75del	XP_016869107.1:n.119+73_119+75del
XM_017013619.1:c.-838+73_-838+75del	XP_016869108.1:n.-838+73_-838+75del
NM_017864.4:c.446+73_446+75del MANE Select	NP_060334.2:n.446+73_446+75del
NR_073444.2:n.591+73_591+75del
NR_073445.2:n.591+73_591+75del