Canonical Allele Identifier: CA2689198176
Gene: DOCK8 HGNC NCBI

Linked Data

gnomAD v4: 9-271551-ATC-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.271552_271553del , CM000671.2:g.271552_271553del GRCh38
NC_000009.11:g.271552_271553del , CM000671.1:g.271552_271553del GRCh37
NC_000009.10:g.261552_261553del NCBI36
NG_017007.1:g.61688_61689del , LRG_196:g.61688_61689del

Transcript Alleles

HGVS Amino-acid change
ENST00000382329.2:c.-151-75_-151-74del ENSP00000371766.2:n.-151-75_-151-74del
ENST00000682121.1:n.166-14909_166-14908del
ENST00000684166.1:n.163-75_163-74del
ENST00000684384.1:n.163-75_163-74del
ENST00000432829.7:c.54-75_54-74del MANE Select ENSP00000394888.3:n.54-75_54-74del
ENST00000432829.6:c.54-75_54-74del ENSP00000394888.3:n.54-75_54-74del
ENST00000454469.6:n.163-75_163-74del
ENST00000469197.5:c.54-75_54-74del ENSP00000418587.1:n.54-75_54-74del
ENST00000479404.5:c.-151-75_-151-74del ENSP00000417082.1:n.-151-75_-151-74del
ENST00000524396.5:c.*17-75_*17-74del ENSP00000436628.1:n.*17-75_*17-74del
NM_203447.3:c.54-75_54-74del , LRG_196t1:c.54-75_54-74del NP_982272.2:n.54-75_54-74del
XM_011518047.1:c.-151-75_-151-74del XP_011516349.1:n.-151-75_-151-74del
XR_929404.1:n.88+1352_88+1353del
XR_929406.1:n.1333+2731_1333+2732del
XM_011518045.3:c.-151-75_-151-74del XP_011516347.1:n.-151-75_-151-74del
XM_011518047.3:c.-151-75_-151-74del XP_011516349.1:n.-151-75_-151-74del
XM_017015173.1:c.-151-75_-151-74del XP_016870662.1:n.-151-75_-151-74del
NM_203447.4:c.54-75_54-74del MANE Select NP_982272.2:n.54-75_54-74del