Canonical Allele Identifier: CA2525681403
Gene: ANGPTL3 HGNC NCBI
DOCK7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.62604268_62604272del , CM000663.2:g.62604268_62604272del GRCh38
NC_000001.10:g.63069939_63069943del , CM000663.1:g.63069939_63069943del GRCh37
NC_000001.9:g.62842527_62842531del NCBI36
NG_028169.1:g.11753_11757del
NG_033073.1:g.89099_89103del
NG_033073.2:g.89099_89103del

Transcript Alleles

HGVS Amino-acid change
ENST00000371129.4:c.1198+33_1198+37del (ANGPTL3) MANE Select ENSP00000360170.3:n.1198+33_1198+37del
ENST00000614472.5:c.1388+14436_1388+14440del (DOCK7) ENSP00000483062.2:n.1388+14436_1388+14440...
ENST00000635253.2:c.1682+14436_1682+14440del (DOCK7) MANE Select ENSP00000489124.1:n.1682+14436_1682+14440...
ENST00000637208.1:c.1682+14436_1682+14440del (DOCK7) ENSP00000490079.1:n.1682+14436_1682+14440...
ENST00000637227.1:n.82-6729_82-6725del (DOCK7)
ENST00000251157.10:c.1682+14436_1682+14440del (DOCK7) ENSP00000251157.6:n.1682+14436_1682+14440...
ENST00000340370.10:c.1682+14436_1682+14440del (DOCK7) ENSP00000340742.5:n.1682+14436_1682+14440...
ENST00000371129.3:c.1198+33_1198+37del (ANGPTL3) ENSP00000360170.3:n.1198+33_1198+37del
ENST00000404627.3:c.1682+14436_1682+14440del (DOCK7) ENSP00000384446.2:n.1682+14436_1682+14440...
ENST00000454575.6:c.1682+14436_1682+14440del (DOCK7) ENSP00000413583.2:n.1682+14436_1682+14440...
ENST00000493994.1:n.361_365del (ANGPTL3)
ENST00000614472.4:c.1358+14436_1358+14440del (DOCK7) ENSP00000483062.1:n.1358+14436_1358+14440...
ENST00000634223.1:c.12+14436_12+14440del (DOCK7)
ENST00000634264.1:c.1682+14436_1682+14440del (DOCK7) ENSP00000489284.1:n.1682+14436_1682+14440...
ENST00000635123.1:c.1682+14436_1682+14440del (DOCK7) ENSP00000489499.1:n.1682+14436_1682+14440...
ENST00000635253.1:c.1682+14436_1682+14440del (DOCK7) ENSP00000489124.1:n.1682+14436_1682+14440...
NM_001271999.1:c.1682+14436_1682+14440del (DOCK7) NP_001258928.1:n.1682+14436_1682+14440del...
NM_001272000.1:c.1682+14436_1682+14440del (DOCK7) NP_001258929.1:n.1682+14436_1682+14440del...
NM_001272001.1:c.1682+14436_1682+14440del (DOCK7) NP_001258930.1:n.1682+14436_1682+14440del...
NM_001272002.1:c.1682+14436_1682+14440del (DOCK7) NP_001258931.1:n.1682+14436_1682+14440del...
NM_014495.3:c.1198+33_1198+37del (ANGPTL3) NP_055310.1:n.1198+33_1198+37del
NM_033407.3:c.1682+14436_1682+14440del (DOCK7) NP_212132.2:n.1682+14436_1682+14440del
XM_005271292.1:c.1682+14436_1682+14440del (DOCK7) XP_005271349.1:n.1682+14436_1682+14440del...
XM_011542326.1:c.1682+14436_1682+14440del (DOCK7) XP_011540628.1:n.1682+14436_1682+14440del...
XM_011542327.1:c.1682+14436_1682+14440del (DOCK7) XP_011540629.1:n.1682+14436_1682+14440del...
XM_011542328.1:c.1682+14436_1682+14440del (DOCK7) XP_011540630.1:n.1682+14436_1682+14440del...
XM_011542329.1:c.1682+14436_1682+14440del (DOCK7) XP_011540631.1:n.1682+14436_1682+14440del...
XM_011542330.1:c.1682+14436_1682+14440del (DOCK7) XP_011540632.1:n.1682+14436_1682+14440del...
NM_001330614.1:c.1682+14436_1682+14440del (DOCK7) NP_001317543.1:n.1682+14436_1682+14440del...
XM_011542326.2:c.1682+14436_1682+14440del (DOCK7) XP_011540628.1:n.1682+14436_1682+14440del...
XM_011542327.2:c.1682+14436_1682+14440del (DOCK7) XP_011540629.1:n.1682+14436_1682+14440del...
XM_011542328.2:c.1682+14436_1682+14440del (DOCK7) XP_011540630.1:n.1682+14436_1682+14440del...
XM_011542330.2:c.1682+14436_1682+14440del (DOCK7) XP_011540632.1:n.1682+14436_1682+14440del...
XM_017002639.1:c.1682+14436_1682+14440del (DOCK7) XP_016858128.1:n.1682+14436_1682+14440del...
XM_017002640.1:c.1682+14436_1682+14440del (DOCK7) XP_016858129.1:n.1682+14436_1682+14440del...
NM_001367561.1:c.1682+14436_1682+14440del (DOCK7) MANE Select NP_001354490.1:n.1682+14436_1682+14440del...
NM_001272002.2:c.1682+14436_1682+14440del (DOCK7) NP_001258931.1:n.1682+14436_1682+14440del...
NM_014495.4:c.1198+33_1198+37del (ANGPTL3) MANE Select NP_055310.1:n.1198+33_1198+37del
NM_001271999.2:c.1682+14436_1682+14440del (DOCK7) NP_001258928.1:n.1682+14436_1682+14440del...
NM_001272000.2:c.1682+14436_1682+14440del (DOCK7) NP_001258929.1:n.1682+14436_1682+14440del...
NM_001272001.2:c.1682+14436_1682+14440del (DOCK7) NP_001258930.1:n.1682+14436_1682+14440del...
NM_001330614.2:c.1682+14436_1682+14440del (DOCK7) NP_001317543.1:n.1682+14436_1682+14440del...
NM_033407.4:c.1682+14436_1682+14440del (DOCK7) NP_212132.2:n.1682+14436_1682+14440del