Canonical Allele Identifier: CA2516864994

Gene: DOCK8

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.377071_377072insC , CM000671.2:g.377071_377072insC	GRCh38
NC_000009.11:g.377071_377072insC , CM000671.1:g.377071_377072insC	GRCh37
NC_000009.10:g.367071_367072insC	NCBI36
NG_017007.1:g.167207_167208insC , LRG_196:g.167207_167208insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.2096_2097insC	ENSP00000371766.2:p.Met699IlefsTer6
ENST00000382331.6:n.797_798insC
ENST00000483757.6:c.*987_*988insC	ENSP00000417691.2:n.*987_*988insC
ENST00000682260.1:n.2196_2197insC
ENST00000685949.1:n.1088_1089insC
ENST00000432829.7:c.2300_2301insC MANE Select	ENSP00000394888.3:p.Met767IlefsTer6
ENST00000382329.1:c.701_702insC	ENSP00000371766.1:p.Met234IlefsTer6
ENST00000382331.5:c.206_207insC	ENSP00000371768.1:p.Met69IlefsTer6
ENST00000432829.6:c.2300_2301insC	ENSP00000394888.3:p.Met767IlefsTer6
ENST00000453981.5:c.2096_2097insC	ENSP00000408464.2:p.Met699IlefsTer6
ENST00000469391.5:c.2096_2097insC	ENSP00000419438.1:p.Met699IlefsTer6
ENST00000483757.5:c.*1775_*1776insC	ENSP00000417691.1:n.*1775_*1776insC
ENST00000495184.5:n.4255_4256insC
NM_001190458.1:c.2096_2097insC	NP_001177387.1:p.Met699IlefsTer6
NM_001193536.1:c.2096_2097insC	NP_001180465.1:p.Met699IlefsTer6
NM_203447.3:c.2300_2301insC , LRG_196t1:c.2300_2301insC	NP_982272.2:p.Met767IlefsTer6
XM_011518045.1:c.2096_2097insC	XP_011516347.1:p.Met699IlefsTer6
XM_011518046.1:c.2162_2163insC	XP_011516348.1:p.Met721IlefsTer6
XM_011518047.1:c.2096_2097insC	XP_011516349.1:p.Met699IlefsTer6
XM_011518048.1:c.2096_2097insC	XP_011516350.1:p.Met699IlefsTer6
XM_011518049.1:c.536_537insC	XP_011516351.1:p.Met179IlefsTer6
XM_011518045.3:c.2096_2097insC	XP_011516347.1:p.Met699IlefsTer6
XM_011518046.2:c.2162_2163insC	XP_011516348.1:p.Met721IlefsTer6
XM_011518047.3:c.2096_2097insC	XP_011516349.1:p.Met699IlefsTer6
XM_011518048.2:c.2096_2097insC	XP_011516350.1:p.Met699IlefsTer6
XM_011518049.2:c.536_537insC	XP_011516351.1:p.Met179IlefsTer6
XM_017015173.1:c.2096_2097insC	XP_016870662.1:p.Met699IlefsTer6
XM_017015174.1:c.2162_2163insC	XP_016870663.1:p.Met721IlefsTer6
NM_001190458.2:c.2096_2097insC	NP_001177387.1:p.Met699IlefsTer6
NM_001193536.2:c.2096_2097insC	NP_001180465.1:p.Met699IlefsTer6
NM_203447.4:c.2300_2301insC MANE Select	NP_982272.2:p.Met767IlefsTer6