Canonical Allele Identifier: CA16612414

Gene: ENG

Linked Data

• ClinVar Variation Id: 407139
• ClinVar RCV Id: RCV000473361 ; RCV000600129 ; RCV002323702 ; RCV002489031
• dbSNP Id: rs1060501425

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127829725_127829726delinsAA , CM000671.2:g.127829725_127829726delinsAA	GRCh38
NC_000009.11:g.130592004_130592005delinsAA , CM000671.1:g.130592004_130592005delinsAA	GRCh37
NC_000009.10:g.129631825_129631826delinsAA	NCBI36
NG_009551.1:g.30043_30044delinsTT , LRG_589:g.30043_30044delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.-226_-225delinsTT	ENSP00000479015.1:n.-226_-225delinsTT
ENST00000373203.9:c.321_322delinsTT MANE Select	ENSP00000362299.4:p.His108Tyr
ENST00000344849.4:c.321_322delinsTT	ENSP00000341917.3:p.His108Tyr
ENST00000373203.8:c.321_322delinsTT	ENSP00000362299.4:p.His108Tyr
ENST00000462196.1:n.79_80delinsTT
ENST00000480266.5:c.-226_-225delinsTT	ENSP00000479015.1:n.-226_-225delinsTT
NM_000118.3:c.321_322delinsTT , LRG_589t1:c.321_322delinsTT	NP_000109.1:p.His108Tyr
NM_001114753.2:c.321_322delinsTT , LRG_589t2:c.321_322delinsTT	NP_001108225.1:p.His108Tyr
NM_001278138.1:c.-226_-225delinsTT	NP_001265067.1:n.-226_-225delinsTT
XR_001746952.2:n.83-2673_83-2672delinsAA
NM_001114753.3:c.321_322delinsTT MANE Select	NP_001108225.1:p.His108Tyr
NM_001278138.2:c.-226_-225delinsTT	NP_001265067.1:n.-226_-225delinsTT