Canonical Allele Identifier: CA1879983057
Gene: ENG HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127816719_127816725delinsGTGGGCC , CM000671.2:g.127816719_127816725delinsGTGGGCC GRCh38
NC_000009.11:g.130578998_130579004delinsGTGGGCC , CM000671.1:g.130578998_130579004delinsGTGGGCC GRCh37
NC_000009.10:g.129618819_129618825delinsGTGGGCC NCBI36
NG_009551.1:g.43044_43050delinsGGCCCAC , LRG_589:g.43044_43050delinsGGCCCAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.1195+424_1195+430delinsGGCCCAC ENSP00000479015.1:n.1195+424_1195+430delinsGGCCCAC
ENST00000373203.9:c.1741+424_1741+430delinsGGCCCAC MANE Select ENSP00000362299.4:n.1741+424_1741+430delinsGGCCCAC
ENST00000344849.4:c.1741+424_1741+430delinsGGCCCAC ENSP00000341917.3:n.1741+424_1741+430delinsGGCCCAC
ENST00000373203.8:c.1741+424_1741+430delinsGGCCCAC ENSP00000362299.4:n.1741+424_1741+430delinsGGCCCAC
ENST00000480266.5:c.1195+424_1195+430delinsGGCCCAC ENSP00000479015.1:n.1195+424_1195+430delinsGGCCCAC
NM_000118.3:c.1741+424_1741+430delinsGGCCCAC , LRG_589t1:c.1741+424_1741+430delinsGGCCCAC NP_000109.1:n.1741+424_1741+430delinsGGCCCAC
NM_001114753.2:c.1741+424_1741+430delinsGGCCCAC , LRG_589t2:c.1741+424_1741+430delinsGGCCCAC NP_001108225.1:n.1741+424_1741+430delinsGGCCCAC
NM_001278138.1:c.1195+424_1195+430delinsGGCCCAC NP_001265067.1:n.1195+424_1195+430delinsGGCCCAC
XM_011519273.1:c.141_147delinsGTGGGCC XP_011517575.1:p.Val47=
NR_136302.1:n.654_660delinsGTGGGCC
NM_001114753.3:c.1741+424_1741+430delinsGGCCCAC MANE Select NP_001108225.1:n.1741+424_1741+430delinsGGCCCAC
NM_001278138.2:c.1195+424_1195+430delinsGGCCCAC NP_001265067.1:n.1195+424_1195+430delinsGGCCCAC
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