Canonical Allele Identifier: CA2691806406

Gene: ENG

Linked Data

• gnomAD v4: 9-127819437-AGAGACCAAGAGCGTCACCCTCAGCAGTCCTGCTCCGGTCATACAGAAGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127819444_127819493del , CM000671.2:g.127819444_127819493del	GRCh38
NC_000009.11:g.130581723_130581772del , CM000671.1:g.130581723_130581772del	GRCh37
NC_000009.10:g.129621544_129621593del	NCBI36
NG_009551.1:g.40282_40331del , LRG_589:g.40282_40331del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.765+135_765+184del	ENSP00000479015.1:n.765+135_765+184del
ENST00000373203.9:c.1311+135_1311+184del MANE Select	ENSP00000362299.4:n.1311+135_1311+184del
ENST00000344849.4:c.1311+135_1311+184del	ENSP00000341917.3:n.1311+135_1311+184del
ENST00000373203.8:c.1311+135_1311+184del	ENSP00000362299.4:n.1311+135_1311+184del
ENST00000480266.5:c.765+135_765+184del	ENSP00000479015.1:n.765+135_765+184del
ENST00000486329.1:n.414_463del
NM_000118.3:c.1311+135_1311+184del , LRG_589t1:c.1311+135_1311+184del	NP_000109.1:n.1311+135_1311+184del
NM_001114753.2:c.1311+135_1311+184del , LRG_589t2:c.1311+135_1311+184del	NP_001108225.1:n.1311+135_1311+184del
NM_001278138.1:c.765+135_765+184del	NP_001265067.1:n.765+135_765+184del
NR_136302.1:n.1568+733_1568+782del
NM_001114753.3:c.1311+135_1311+184del MANE Select	NP_001108225.1:n.1311+135_1311+184del
NM_001278138.2:c.765+135_765+184del	NP_001265067.1:n.765+135_765+184del