Canonical Allele Identifier: CA1129278352

Gene: ENG

Linked Data

• dbSNP Id: rs1829090067
• gnomAD v3: 9-127853973-ACT-A
• gnomAD v4: 9-127853973-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127853977_127853978del , CM000671.2:g.127853977_127853978del	GRCh38
NC_000009.11:g.130616256_130616257del , CM000671.1:g.130616256_130616257del	GRCh37
NC_000009.10:g.129656077_129656078del	NCBI36
NG_009551.1:g.5794_5795del , LRG_589:g.5794_5795del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373203.9:c.67+314_67+315del MANE Select	ENSP00000362299.4:n.67+314_67+315del
ENST00000344849.4:c.67+314_67+315del	ENSP00000341917.3:n.67+314_67+315del
ENST00000373203.8:c.67+314_67+315del	ENSP00000362299.4:n.67+314_67+315del
NM_000118.3:c.67+314_67+315del , LRG_589t1:c.67+314_67+315del	NP_000109.1:n.67+314_67+315del
NM_001114753.2:c.67+314_67+315del , LRG_589t2:c.67+314_67+315del	NP_001108225.1:n.67+314_67+315del
NM_001114753.3:c.67+314_67+315del MANE Select	NP_001108225.1:n.67+314_67+315del