Canonical Allele Identifier: CA181441028

Gene: INTS8

Linked Data

• dbSNP Id: rs987440738
• gnomAD v3: 8-94828043-TTG-T
• gnomAD v4: 8-94828043-TTG-T
• MyVariant Identifiers: chr8:g.95840272_95840273del (hg19) ; chr8:g.94828044_94828045del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.94828045_94828046del , CM000670.2:g.94828045_94828046del	GRCh38
NC_000008.10:g.95840273_95840274del , CM000670.1:g.95840273_95840274del	GRCh37
NC_000008.9:g.95909449_95909450del	NCBI36
NG_047163.1:g.19735_19736del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000523731.6:c.518+252_518+253del MANE Select	ENSP00000430338.1:n.518+252_518+253del
ENST00000343161.8:c.518+252_518+253del	ENSP00000343274.4:n.518+252_518+253del
ENST00000519053.5:c.191+252_191+253del	ENSP00000429056.1:n.191+252_191+253del
ENST00000519457.5:c.377+252_377+253del	ENSP00000428260.1:n.377+252_377+253del
ENST00000521860.5:c.480+252_480+253del
ENST00000522171.5:c.395+252_395+253del	ENSP00000429340.1:n.395+252_395+253del
ENST00000523206.5:c.518+252_518+253del	ENSP00000429452.1:n.518+252_518+253del
ENST00000523321.5:n.643+252_643+253del
ENST00000523731.5:c.518+252_518+253del	ENSP00000430338.1:n.518+252_518+253del
ENST00000524333.5:c.518+252_518+253del	ENSP00000427840.1:n.518+252_518+253del
NM_017864.3:c.518+252_518+253del	NP_060334.2:n.518+252_518+253del
NR_073444.1:n.660+252_660+253del
NR_073445.1:n.660+252_660+253del
XM_006716602.2:c.518+252_518+253del	XP_006716665.1:n.518+252_518+253del
XM_006716603.2:c.191+252_191+253del	XP_006716666.1:n.191+252_191+253del
XM_011517155.1:c.395+252_395+253del	XP_011515457.1:n.395+252_395+253del
XM_011517156.1:c.518+252_518+253del	XP_011515458.1:n.518+252_518+253del
XM_011517157.1:c.191+252_191+253del	XP_011515459.1:n.191+252_191+253del
XM_017013616.1:c.518+252_518+253del	XP_016869105.1:n.518+252_518+253del
XM_017013617.1:c.518+252_518+253del	XP_016869106.1:n.518+252_518+253del
XM_017013618.1:c.191+252_191+253del	XP_016869107.1:n.191+252_191+253del
XM_017013619.1:c.-766+252_-766+253del	XP_016869108.1:n.-766+252_-766+253del
NM_017864.4:c.518+252_518+253del MANE Select	NP_060334.2:n.518+252_518+253del
NR_073444.2:n.663+252_663+253del
NR_073445.2:n.663+252_663+253del