Canonical Allele Identifier: CA2602193712

Gene: INTS8

Linked Data

• dbSNP Id: rs2130992294
• gnomAD v3: 8-94827908-GA-G
• gnomAD v4: 8-94827908-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.94827910del , CM000670.2:g.94827910del	GRCh38
NC_000008.10:g.95840138del , CM000670.1:g.95840138del	GRCh37
NC_000008.9:g.95909314del	NCBI36
NG_047163.1:g.19600del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000523731.6:c.518+117del MANE Select	ENSP00000430338.1:n.518+117del
ENST00000343161.8:c.518+117del	ENSP00000343274.4:n.518+117del
ENST00000519053.5:c.191+117del	ENSP00000429056.1:n.191+117del
ENST00000519457.5:c.377+117del	ENSP00000428260.1:n.377+117del
ENST00000521860.5:c.480+117del
ENST00000522171.5:c.395+117del	ENSP00000429340.1:n.395+117del
ENST00000523206.5:c.518+117del	ENSP00000429452.1:n.518+117del
ENST00000523321.5:n.643+117del
ENST00000523731.5:c.518+117del	ENSP00000430338.1:n.518+117del
ENST00000524333.5:c.518+117del	ENSP00000427840.1:n.518+117del
NM_017864.3:c.518+117del	NP_060334.2:n.518+117del
NR_073444.1:n.660+117del
NR_073445.1:n.660+117del
XM_006716602.2:c.518+117del	XP_006716665.1:n.518+117del
XM_006716603.2:c.191+117del	XP_006716666.1:n.191+117del
XM_011517155.1:c.395+117del	XP_011515457.1:n.395+117del
XM_011517156.1:c.518+117del	XP_011515458.1:n.518+117del
XM_011517157.1:c.191+117del	XP_011515459.1:n.191+117del
XM_017013616.1:c.518+117del	XP_016869105.1:n.518+117del
XM_017013617.1:c.518+117del	XP_016869106.1:n.518+117del
XM_017013618.1:c.191+117del	XP_016869107.1:n.191+117del
XM_017013619.1:c.-766+117del	XP_016869108.1:n.-766+117del
NM_017864.4:c.518+117del MANE Select	NP_060334.2:n.518+117del
NR_073444.2:n.663+117del
NR_073445.2:n.663+117del