Canonical Allele Identifier: CA181440491

Gene: INTS8

Linked Data

• dbSNP Id: rs746664328
• gnomAD v3: 8-94827616-CAATT-C
• gnomAD v4: 8-94827616-CAATT-C
• MyVariant Identifiers: chr8:g.95839845_95839848del (hg19) ; chr8:g.94827617_94827620del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.94827620_94827623del , CM000670.2:g.94827620_94827623del	GRCh38
NC_000008.10:g.95839848_95839851del , CM000670.1:g.95839848_95839851del	GRCh37
NC_000008.9:g.95909024_95909027del	NCBI36
NG_047163.1:g.19310_19313del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000523731.6:c.447-102_447-99del MANE Select	ENSP00000430338.1:n.447-102_447-99del
ENST00000343161.8:c.447-102_447-99del	ENSP00000343274.4:n.447-102_447-99del
ENST00000519053.5:c.120-102_120-99del	ENSP00000429056.1:n.120-102_120-99del
ENST00000519457.5:c.306-102_306-99del	ENSP00000428260.1:n.306-102_306-99del
ENST00000521860.5:c.409-102_409-99del
ENST00000522171.5:c.324-102_324-99del	ENSP00000429340.1:n.324-102_324-99del
ENST00000523206.5:c.447-102_447-99del	ENSP00000429452.1:n.447-102_447-99del
ENST00000523321.5:n.572-102_572-99del
ENST00000523731.5:c.447-102_447-99del	ENSP00000430338.1:n.447-102_447-99del
ENST00000524333.5:c.447-102_447-99del	ENSP00000427840.1:n.447-102_447-99del
NM_017864.3:c.447-102_447-99del	NP_060334.2:n.447-102_447-99del
NR_073444.1:n.589-102_589-99del
NR_073445.1:n.589-102_589-99del
XM_006716602.2:c.447-102_447-99del	XP_006716665.1:n.447-102_447-99del
XM_006716603.2:c.120-102_120-99del	XP_006716666.1:n.120-102_120-99del
XM_011517155.1:c.324-102_324-99del	XP_011515457.1:n.324-102_324-99del
XM_011517156.1:c.447-102_447-99del	XP_011515458.1:n.447-102_447-99del
XM_011517157.1:c.120-102_120-99del	XP_011515459.1:n.120-102_120-99del
XM_017013616.1:c.447-102_447-99del	XP_016869105.1:n.447-102_447-99del
XM_017013617.1:c.447-102_447-99del	XP_016869106.1:n.447-102_447-99del
XM_017013618.1:c.120-102_120-99del	XP_016869107.1:n.120-102_120-99del
XM_017013619.1:c.-837-102_-837-99del	XP_016869108.1:n.-837-102_-837-99del
NM_017864.4:c.447-102_447-99del MANE Select	NP_060334.2:n.447-102_447-99del
NR_073444.2:n.592-102_592-99del
NR_073445.2:n.592-102_592-99del