Canonical Allele Identifier: CA2691805172

Gene: ENG

Linked Data

• gnomAD v4: 9-127815178-C-CCCGGGTGGATGG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815178_127815179insCCGGGTGGATGG , CM000671.2:g.127815178_127815179insCCGGGTGGATGG	GRCh38
NC_000009.11:g.130577457_130577458insCCGGGTGGATGG , CM000671.1:g.130577457_130577458insCCGGGTGGATGG	GRCh37
NC_000009.10:g.129617278_129617279insCCGGGTGGATGG	NCBI36
NG_009551.1:g.44590_44591insCCATCCACCCGG , LRG_589:g.44590_44591insCCATCCACCCGG
NG_023245.1:g.17304_17305insCCGGGTGGATGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.*503_*504insCCATCCACCCGG	ENSP00000479015.1:n.*503_*504insCCATCCACCCGG
ENST00000373203.9:c.*503_*504insCCATCCACCCGG MANE Select	ENSP00000362299.4:n.*503_*504insCCATCCACCCGG
ENST00000344849.4:c.*738_*739insCCATCCACCCGG	ENSP00000341917.3:n.*738_*739insCCATCCACCCGG
ENST00000373203.8:c.*503_*504insCCATCCACCCGG	ENSP00000362299.4:n.*503_*504insCCATCCACCCGG
ENST00000480266.5:c.*503_*504insCCATCCACCCGG	ENSP00000479015.1:n.*503_*504insCCATCCACCCGG
NM_000118.3:c.*738_*739insCCATCCACCCGG , LRG_589t1:c.*738_*739insCCATCCACCCGG	NP_000109.1:n.*738_*739insCCATCCACCCGG
NM_001114753.2:c.*503_*504insCCATCCACCCGG , LRG_589t2:c.*503_*504insCCATCCACCCGG	NP_001108225.1:n.*503_*504insCCATCCACCCGG
NM_001278138.1:c.*503_*504insCCATCCACCCGG	NP_001265067.1:n.*503_*504insCCATCCACCCGG
NM_001114753.3:c.*503_*504insCCATCCACCCGG MANE Select	NP_001108225.1:n.*503_*504insCCATCCACCCGG
NM_001278138.2:c.*503_*504insCCATCCACCCGG	NP_001265067.1:n.*503_*504insCCATCCACCCGG