Canonical Allele Identifier: CA187818664
Gene: DOCK8 HGNC NCBI

Linked Data

dbSNP Id: rs1008944864

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.441338_441358del , CM000671.2:g.441338_441358del GRCh38
NC_000009.11:g.441338_441358del , CM000671.1:g.441338_441358del GRCh37
NC_000009.10:g.431338_431358del NCBI36
NG_017007.1:g.231474_231494del , LRG_196:g.231474_231494del

Transcript Alleles

HGVS Amino-acid change
ENST00000382329.2:c.4976_4996del ENSP00000371766.2:p.Leu1659_Phe1665del
ENST00000683406.1:n.1751_1771del
ENST00000684637.1:n.957_977del
ENST00000685949.1:n.4064_4084del
ENST00000432829.7:c.5276_5296del MANE Select ENSP00000394888.3:p.Leu1759_Phe1765del
ENST00000382329.1:c.3677_3697del ENSP00000371766.1:p.Leu1226_Phe1232del
ENST00000432829.6:c.5276_5296del ENSP00000394888.3:p.Leu1759_Phe1765del
ENST00000453981.5:c.5072_5092del ENSP00000408464.2:p.Leu1691_Phe1697del
ENST00000469391.5:c.4976_4996del ENSP00000419438.1:p.Leu1659_Phe1665del
ENST00000495184.5:n.7231_7251del
NM_001190458.1:c.4976_4996del NP_001177387.1:p.Leu1659_Phe1665del
NM_001193536.1:c.5072_5092del NP_001180465.1:p.Leu1691_Phe1697del
NM_203447.3:c.5276_5296del , LRG_196t1:c.5276_5296del NP_982272.2:p.Leu1759_Phe1765del
XM_011518045.1:c.4976_4996del XP_011516347.1:p.Leu1659_Phe1665del
XM_011518046.1:c.5138_5158del XP_011516348.1:p.Leu1713_Phe1719del
XM_011518047.1:c.5072_5092del XP_011516349.1:p.Leu1691_Phe1697del
XM_011518048.1:c.5072_5092del XP_011516350.1:p.Leu1691_Phe1697del
XM_011518049.1:c.3512_3532del XP_011516351.1:p.Leu1171_Phe1177del
XM_011518045.3:c.4976_4996del XP_011516347.1:p.Leu1659_Phe1665del
XM_011518046.2:c.5138_5158del XP_011516348.1:p.Leu1713_Phe1719del
XM_011518047.3:c.5072_5092del XP_011516349.1:p.Leu1691_Phe1697del
XM_011518048.2:c.5072_5092del XP_011516350.1:p.Leu1691_Phe1697del
XM_011518049.2:c.3512_3532del XP_011516351.1:p.Leu1171_Phe1177del
XM_017015173.1:c.5072_5092del XP_016870662.1:p.Leu1691_Phe1697del
XM_017015174.1:c.5138_5158del XP_016870663.1:p.Leu1713_Phe1719del
NM_001190458.2:c.4976_4996del NP_001177387.1:p.Leu1659_Phe1665del
NM_001193536.2:c.5072_5092del NP_001180465.1:p.Leu1691_Phe1697del
NM_203447.4:c.5276_5296del MANE Select NP_982272.2:p.Leu1759_Phe1765del