Canonical Allele Identifier: CA1120385054

Gene: DOCK8

Linked Data

• dbSNP Id: rs2057458998
• gnomAD v3: 9-451927-G-GCATATACATATA
• gnomAD v4: 9-451927-G-GCATATACATATA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.451927_451928insCATATACATATA , CM000671.2:g.451927_451928insCATATACATATA	GRCh38
NC_000009.11:g.451927_451928insCATATACATATA , CM000671.1:g.451927_451928insCATATACATATA	GRCh37
NC_000009.10:g.441927_441928insCATATACATATA	NCBI36
NG_017007.1:g.242063_242064insCATATACATATA , LRG_196:g.242063_242064insCATATACATATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.5662-84_5662-83insCATATACATATA	ENSP00000371766.2:n.5662-84_5662-83insCATATACATATA
ENST00000683406.1:n.2437-84_2437-83insCATATACATATA
ENST00000684637.1:n.1643-84_1643-83insCATATACATATA
ENST00000685949.1:n.4750-84_4750-83insCATATACATATA
ENST00000432829.7:c.5962-84_5962-83insCATATACATATA MANE Select	ENSP00000394888.3:n.5962-84_5962-83insCATATACATATA
ENST00000382329.1:c.4363-84_4363-83insCATATACATATA	ENSP00000371766.1:n.4363-84_4363-83insCATATACATATA
ENST00000432829.6:c.5962-84_5962-83insCATATACATATA	ENSP00000394888.3:n.5962-84_5962-83insCATATACATATA
ENST00000453981.5:c.5758-84_5758-83insCATATACATATA	ENSP00000408464.2:n.5758-84_5758-83insCATATACATATA
ENST00000469391.5:c.5662-84_5662-83insCATATACATATA	ENSP00000419438.1:n.5662-84_5662-83insCATATACATATA
ENST00000495184.5:n.7917-84_7917-83insCATATACATATA
NM_001190458.1:c.5662-84_5662-83insCATATACATATA	NP_001177387.1:n.5662-84_5662-83insCATATACATATA
NM_001193536.1:c.5758-84_5758-83insCATATACATATA	NP_001180465.1:n.5758-84_5758-83insCATATACATATA
NM_203447.3:c.5962-84_5962-83insCATATACATATA , LRG_196t1:c.5962-84_5962-83insCATATACATATA	NP_982272.2:n.5962-84_5962-83insCATATACATATA
XM_011518045.1:c.5662-84_5662-83insCATATACATATA	XP_011516347.1:n.5662-84_5662-83insCATATACATATA
XM_011518046.1:c.5824-84_5824-83insCATATACATATA	XP_011516348.1:n.5824-84_5824-83insCATATACATATA
XM_011518047.1:c.5758-84_5758-83insCATATACATATA	XP_011516349.1:n.5758-84_5758-83insCATATACATATA
XM_011518048.1:c.5758-84_5758-83insCATATACATATA	XP_011516350.1:n.5758-84_5758-83insCATATACATATA
XM_011518049.1:c.4198-84_4198-83insCATATACATATA	XP_011516351.1:n.4198-84_4198-83insCATATACATATA
XM_011518045.3:c.5662-84_5662-83insCATATACATATA	XP_011516347.1:n.5662-84_5662-83insCATATACATATA
XM_011518046.2:c.5824-84_5824-83insCATATACATATA	XP_011516348.1:n.5824-84_5824-83insCATATACATATA
XM_011518047.3:c.5758-84_5758-83insCATATACATATA	XP_011516349.1:n.5758-84_5758-83insCATATACATATA
XM_011518048.2:c.5758-84_5758-83insCATATACATATA	XP_011516350.1:n.5758-84_5758-83insCATATACATATA
XM_011518049.2:c.4198-84_4198-83insCATATACATATA	XP_011516351.1:n.4198-84_4198-83insCATATACATATA
XM_017015173.1:c.5758-84_5758-83insCATATACATATA	XP_016870662.1:n.5758-84_5758-83insCATATACATATA
XM_017015174.1:c.5824-84_5824-83insCATATACATATA	XP_016870663.1:n.5824-84_5824-83insCATATACATATA
NM_001190458.2:c.5662-84_5662-83insCATATACATATA	NP_001177387.1:n.5662-84_5662-83insCATATACATATA
NM_001193536.2:c.5758-84_5758-83insCATATACATATA	NP_001180465.1:n.5758-84_5758-83insCATATACATATA
NM_203447.4:c.5962-84_5962-83insCATATACATATA MANE Select	NP_982272.2:n.5962-84_5962-83insCATATACATATA