Canonical Allele Identifier: CA2687964125

Gene: INTS8

Linked Data

• gnomAD v4: 8-94827466-CAAGGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.94827467_94827471del , CM000670.2:g.94827467_94827471del	GRCh38
NC_000008.10:g.95839695_95839699del , CM000670.1:g.95839695_95839699del	GRCh37
NC_000008.9:g.95908871_95908875del	NCBI36
NG_047163.1:g.19157_19161del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000523731.6:c.446+64_446+68del MANE Select	ENSP00000430338.1:n.446+64_446+68del
ENST00000343161.8:c.446+64_446+68del	ENSP00000343274.4:n.446+64_446+68del
ENST00000519053.5:c.119+64_119+68del	ENSP00000429056.1:n.119+64_119+68del
ENST00000519457.5:c.306-255_306-251del	ENSP00000428260.1:n.306-255_306-251del
ENST00000521860.5:c.408+64_408+68del
ENST00000522171.5:c.323+64_323+68del	ENSP00000429340.1:n.323+64_323+68del
ENST00000523206.5:c.446+64_446+68del	ENSP00000429452.1:n.446+64_446+68del
ENST00000523321.5:n.571+64_571+68del
ENST00000523731.5:c.446+64_446+68del	ENSP00000430338.1:n.446+64_446+68del
ENST00000524333.5:c.446+64_446+68del	ENSP00000427840.1:n.446+64_446+68del
NM_017864.3:c.446+64_446+68del	NP_060334.2:n.446+64_446+68del
NR_073444.1:n.588+64_588+68del
NR_073445.1:n.588+64_588+68del
XM_006716602.2:c.446+64_446+68del	XP_006716665.1:n.446+64_446+68del
XM_006716603.2:c.119+64_119+68del	XP_006716666.1:n.119+64_119+68del
XM_011517155.1:c.323+64_323+68del	XP_011515457.1:n.323+64_323+68del
XM_011517156.1:c.446+64_446+68del	XP_011515458.1:n.446+64_446+68del
XM_011517157.1:c.119+64_119+68del	XP_011515459.1:n.119+64_119+68del
XM_017013616.1:c.446+64_446+68del	XP_016869105.1:n.446+64_446+68del
XM_017013617.1:c.446+64_446+68del	XP_016869106.1:n.446+64_446+68del
XM_017013618.1:c.119+64_119+68del	XP_016869107.1:n.119+64_119+68del
XM_017013619.1:c.-838+64_-838+68del	XP_016869108.1:n.-838+64_-838+68del
NM_017864.4:c.446+64_446+68del MANE Select	NP_060334.2:n.446+64_446+68del
NR_073444.2:n.591+64_591+68del
NR_073445.2:n.591+64_591+68del