Canonical Allele Identifier: CA4813304

Gene: INTS8

Linked Data

• dbSNP Id: rs766817593
• ExAC: 8:95839937 GTCTTT / G
• gnomAD v2: 8-95839937-GTCTTT-G
• gnomAD v3: 8-94827709-GTCTTT-G
• gnomAD v4: 8-94827709-GTCTTT-G
• MyVariant Identifiers: chr8:g.95839938_95839942del (hg19) ; chr8:g.94827711_94827715del (hg38) ; chr8:g.94827710_94827714del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.94827714_94827718del , CM000670.2:g.94827714_94827718del	GRCh38
NC_000008.10:g.95839942_95839946del , CM000670.1:g.95839942_95839946del	GRCh37
NC_000008.9:g.95909118_95909122del	NCBI36
NG_047163.1:g.19404_19408del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000523731.6:c.447-8_447-4del MANE Select	ENSP00000430338.1:n.447-8_447-4del
ENST00000343161.8:c.447-8_447-4del	ENSP00000343274.4:n.447-8_447-4del
ENST00000519053.5:c.120-8_120-4del	ENSP00000429056.1:n.120-8_120-4del
ENST00000519457.5:c.306-8_306-4del	ENSP00000428260.1:n.306-8_306-4del
ENST00000521860.5:c.409-8_409-4del
ENST00000522171.5:c.324-8_324-4del	ENSP00000429340.1:n.324-8_324-4del
ENST00000523206.5:c.447-8_447-4del	ENSP00000429452.1:n.447-8_447-4del
ENST00000523321.5:n.572-8_572-4del
ENST00000523731.5:c.447-8_447-4del	ENSP00000430338.1:n.447-8_447-4del
ENST00000524333.5:c.447-8_447-4del	ENSP00000427840.1:n.447-8_447-4del
NM_017864.3:c.447-8_447-4del	NP_060334.2:n.447-8_447-4del
NR_073444.1:n.589-8_589-4del
NR_073445.1:n.589-8_589-4del
XM_006716602.2:c.447-8_447-4del	XP_006716665.1:n.447-8_447-4del
XM_006716603.2:c.120-8_120-4del	XP_006716666.1:n.120-8_120-4del
XM_011517155.1:c.324-8_324-4del	XP_011515457.1:n.324-8_324-4del
XM_011517156.1:c.447-8_447-4del	XP_011515458.1:n.447-8_447-4del
XM_011517157.1:c.120-8_120-4del	XP_011515459.1:n.120-8_120-4del
XM_017013616.1:c.447-8_447-4del	XP_016869105.1:n.447-8_447-4del
XM_017013617.1:c.447-8_447-4del	XP_016869106.1:n.447-8_447-4del
XM_017013618.1:c.120-8_120-4del	XP_016869107.1:n.120-8_120-4del
XM_017013619.1:c.-837-8_-837-4del	XP_016869108.1:n.-837-8_-837-4del
NM_017864.4:c.447-8_447-4del MANE Select	NP_060334.2:n.447-8_447-4del
NR_073444.2:n.592-8_592-4del
NR_073445.2:n.592-8_592-4del