Canonical Allele Identifier: CA2580079628

Gene: ENG

Linked Data

• ClinVar Variation Id: 2135809
• ClinVar RCV Id: RCV003059747

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824396_127824499del , CM000671.2:g.127824396_127824499del	GRCh38
NC_000009.11:g.130586675_130586778del , CM000671.1:g.130586675_130586778del	GRCh37
NC_000009.10:g.129626496_129626599del	NCBI36
NG_009551.1:g.35274_35377del , LRG_589:g.35274_35377del

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.446-49_500del
ENST00000373203.9:c.992-49_1046del
ENST00000344849.4:c.992-49_1046del
ENST00000373203.8:c.992-49_1046del
ENST00000480266.5:c.446-49_500del
NM_000118.3:c.992-49_1046del , LRG_589t1:c.992-49_1046del
NM_001114753.2:c.992-49_1046del , LRG_589t2:c.992-49_1046del
NM_001278138.1:c.446-49_500del
NM_001114753.3:c.992-49_1046del
NM_001278138.2:c.446-49_500del