Canonical Allele Identifier: CA1879989478

Gene: ENG

Linked Data

• dbSNP Id: rs1830430473
• gnomAD v4: 9-127819865-GCTGGTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127819869_127819874del , CM000671.2:g.127819869_127819874del	GRCh38
NC_000009.11:g.130582148_130582153del , CM000671.1:g.130582148_130582153del	GRCh37
NC_000009.10:g.129621969_129621974del	NCBI36
NG_009551.1:g.39898_39903del , LRG_589:g.39898_39903del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.726+29_726+34del	ENSP00000479015.1:n.726+29_726+34del
ENST00000373203.9:c.1272+29_1272+34del MANE Select	ENSP00000362299.4:n.1272+29_1272+34del
ENST00000344849.4:c.1272+29_1272+34del	ENSP00000341917.3:n.1272+29_1272+34del
ENST00000373203.8:c.1272+29_1272+34del	ENSP00000362299.4:n.1272+29_1272+34del
ENST00000480266.5:c.726+29_726+34del	ENSP00000479015.1:n.726+29_726+34del
ENST00000486329.1:n.240+29_240+34del
NM_000118.3:c.1272+29_1272+34del , LRG_589t1:c.1272+29_1272+34del	NP_000109.1:n.1272+29_1272+34del
NM_001114753.2:c.1272+29_1272+34del , LRG_589t2:c.1272+29_1272+34del	NP_001108225.1:n.1272+29_1272+34del
NM_001278138.1:c.726+29_726+34del	NP_001265067.1:n.726+29_726+34del
NR_136302.1:n.1568+1158_1568+1163del
NM_001114753.3:c.1272+29_1272+34del MANE Select	NP_001108225.1:n.1272+29_1272+34del
NM_001278138.2:c.726+29_726+34del	NP_001265067.1:n.726+29_726+34del