Canonical Allele Identifier: CA2580079618

Gene: ENG

Linked Data

• ClinVar Variation Id: 1777928
• ClinVar RCV Id: RCV002414544

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127818106_127818125del , CM000671.2:g.127818106_127818125del	GRCh38
NC_000009.11:g.130580385_130580404del , CM000671.1:g.130580385_130580404del	GRCh37
NC_000009.10:g.129620206_129620225del	NCBI36
NG_009551.1:g.41645_41664del , LRG_589:g.41645_41664del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1136_1140+15del
ENST00000373203.9:c.1682_1686+15del
ENST00000344849.4:c.1682_1686+15del
ENST00000373203.8:c.1682_1686+15del
ENST00000480266.5:c.1136_1140+15del
NM_000118.3:c.1682_1686+15del , LRG_589t1:c.1682_1686+15del
NM_001114753.2:c.1682_1686+15del , LRG_589t2:c.1682_1686+15del
NM_001278138.1:c.1136_1140+15del
NR_136302.1:n.1378-205_1378-186del
NM_001114753.3:c.1682_1686+15del
NM_001278138.2:c.1136_1140+15del