Canonical Allele Identifier: CA2697558072

Gene: ENG

Linked Data

• ClinVar Variation Id: 2741969
• ClinVar RCV Id: RCV003593522

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127826645_127826646delinsAT , CM000671.2:g.127826645_127826646delinsAT	GRCh38
NC_000009.11:g.130588924_130588925delinsAT , CM000671.1:g.130588924_130588925delinsAT	GRCh37
NC_000009.10:g.129628745_129628746delinsAT	NCBI36
NG_009551.1:g.33123_33124delinsAT , LRG_589:g.33123_33124delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.-160_-159delinsAT	ENSP00000479015.1:n.-160_-159delinsAT
ENST00000373203.9:c.387_388delinsAT MANE Select	ENSP00000362299.4:p.Pro130Ser
ENST00000344849.4:c.387_388delinsAT	ENSP00000341917.3:p.Pro130Ser
ENST00000373203.8:c.387_388delinsAT	ENSP00000362299.4:p.Pro130Ser
ENST00000462196.1:n.287_288delinsAT
ENST00000480266.5:c.-160_-159delinsAT	ENSP00000479015.1:n.-160_-159delinsAT
NM_000118.3:c.387_388delinsAT , LRG_589t1:c.387_388delinsAT	NP_000109.1:p.Pro130Ser
NM_001114753.2:c.387_388delinsAT , LRG_589t2:c.387_388delinsAT	NP_001108225.1:p.Pro130Ser
NM_001278138.1:c.-160_-159delinsAT	NP_001265067.1:n.-160_-159delinsAT
XR_001746952.2:n.82+1187_82+1188delinsAT
NM_001114753.3:c.387_388delinsAT MANE Select	NP_001108225.1:p.Pro130Ser
NM_001278138.2:c.-160_-159delinsAT	NP_001265067.1:n.-160_-159delinsAT