Canonical Allele Identifier: CA2691805301

Gene: ENG

Linked Data

• gnomAD v4: 9-127815276-GCCCTCTTCTCTTCCCAGCGGGGAGGTGCTGTTGGCCTGGCTGGGCTGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815278_127815326del , CM000671.2:g.127815278_127815326del	GRCh38
NC_000009.11:g.130577557_130577605del , CM000671.1:g.130577557_130577605del	GRCh37
NC_000009.10:g.129617378_129617426del	NCBI36
NG_009551.1:g.44444_44492del , LRG_589:g.44444_44492del
NG_023245.1:g.17404_17452del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.*357_*405del	ENSP00000479015.1:n.*357_*405del
ENST00000373203.9:c.*357_*405del MANE Select	ENSP00000362299.4:n.*357_*405del
ENST00000344849.4:c.*592_*640del	ENSP00000341917.3:n.*592_*640del
ENST00000373203.8:c.*357_*405del	ENSP00000362299.4:n.*357_*405del
ENST00000480266.5:c.*357_*405del	ENSP00000479015.1:n.*357_*405del
NM_000118.3:c.*592_*640del , LRG_589t1:c.*592_*640del	NP_000109.1:n.*592_*640del
NM_001114753.2:c.*357_*405del , LRG_589t2:c.*357_*405del	NP_001108225.1:n.*357_*405del
NM_001278138.1:c.*357_*405del	NP_001265067.1:n.*357_*405del
NM_001114753.3:c.*357_*405del MANE Select	NP_001108225.1:n.*357_*405del
NM_001278138.2:c.*357_*405del	NP_001265067.1:n.*357_*405del