Canonical Allele Identifier: CA2691805742

Gene: ENG

Linked Data

• gnomAD v4: 9-127815742-GCTGCTGCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815745_127815752del , CM000671.2:g.127815745_127815752del	GRCh38
NC_000009.11:g.130578024_130578031del , CM000671.1:g.130578024_130578031del	GRCh37
NC_000009.10:g.129617845_129617852del	NCBI36
NG_009551.1:g.44019_44026del , LRG_589:g.44019_44026del
NG_023245.1:g.17871_17878del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1363_1370del	ENSP00000479015.1:p.Ser455HisfsTer?
ENST00000373203.9:c.1909_1916del MANE Select	ENSP00000362299.4:p.Ser637HisfsTer?
ENST00000344849.4:c.*167_*174del	ENSP00000341917.3:n.*167_*174del
ENST00000373203.8:c.1909_1916del	ENSP00000362299.4:p.Ser637HisfsTer?
ENST00000480266.5:c.1363_1370del	ENSP00000479015.1:p.Ser455HisfsTer?
NM_000118.3:c.*167_*174del , LRG_589t1:c.*167_*174del	NP_000109.1:n.*167_*174del
NM_001114753.2:c.1909_1916del , LRG_589t2:c.1909_1916del	NP_001108225.1:p.Ser637HisfsTer?
NM_001278138.1:c.1363_1370del	NP_001265067.1:p.Ser455HisfsTer?
NM_001114753.3:c.1909_1916del MANE Select	NP_001108225.1:p.Ser637HisfsTer?
NM_001278138.2:c.1363_1370del	NP_001265067.1:p.Ser455HisfsTer?