Canonical Allele Identifier: CA2691808530

Gene: ENG

Linked Data

• gnomAD v4: 9-127829885-ACCCAGACAGGCAGTGATGATTTGGATGCTTCCACTCCACTCTCCCTGCCTGCTCTGTCCACCCTCAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127829887_127829953del , CM000671.2:g.127829887_127829953del	GRCh38
NC_000009.11:g.130592166_130592232del , CM000671.1:g.130592166_130592232del	GRCh37
NC_000009.10:g.129631987_129632053del	NCBI36
NG_009551.1:g.29817_29883del , LRG_589:g.29817_29883del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.-327-125_-327-59del	ENSP00000479015.1:n.-327-125_-327-59del
ENST00000373203.9:c.220-125_220-59del MANE Select	ENSP00000362299.4:n.220-125_220-59del
ENST00000344849.4:c.220-125_220-59del	ENSP00000341917.3:n.220-125_220-59del
ENST00000373203.8:c.220-125_220-59del	ENSP00000362299.4:n.220-125_220-59del
ENST00000480266.5:c.-327-125_-327-59del	ENSP00000479015.1:n.-327-125_-327-59del
NM_000118.3:c.220-125_220-59del , LRG_589t1:c.220-125_220-59del	NP_000109.1:n.220-125_220-59del
NM_001114753.2:c.220-125_220-59del , LRG_589t2:c.220-125_220-59del	NP_001108225.1:n.220-125_220-59del
NM_001278138.1:c.-327-125_-327-59del	NP_001265067.1:n.-327-125_-327-59del
XR_001746952.2:n.83-2511_83-2445del
NM_001114753.3:c.220-125_220-59del MANE Select	NP_001108225.1:n.220-125_220-59del
NM_001278138.2:c.-327-125_-327-59del	NP_001265067.1:n.-327-125_-327-59del