Canonical Allele Identifier: CA2691805860

Gene: ENG

Linked Data

• gnomAD v4: 9-127816039-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127816042del , CM000671.2:g.127816042del	GRCh38
NC_000009.11:g.130578321del , CM000671.1:g.130578321del	GRCh37
NC_000009.10:g.129618142del	NCBI36
NG_009551.1:g.43729del , LRG_589:g.43729del
NG_023245.1:g.18168del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1209del	ENSP00000479015.1:p.Gly404AlafsTer?
ENST00000373203.9:c.1755del MANE Select	ENSP00000362299.4:p.Gly586AlafsTer?
ENST00000344849.4:c.1755del	ENSP00000341917.3:p.Gly586AlafsTer?
ENST00000373203.8:c.1755del	ENSP00000362299.4:p.Gly586AlafsTer?
ENST00000480266.5:c.1209del	ENSP00000479015.1:p.Gly404AlafsTer?
NM_000118.3:c.1755del , LRG_589t1:c.1755del	NP_000109.1:p.Gly586AlafsTer?
NM_001114753.2:c.1755del , LRG_589t2:c.1755del	NP_001108225.1:p.Gly586AlafsTer?
NM_001278138.1:c.1209del	NP_001265067.1:p.Gly404AlafsTer?
NM_001114753.3:c.1755del MANE Select	NP_001108225.1:p.Gly586AlafsTer?
NM_001278138.2:c.1209del	NP_001265067.1:p.Gly404AlafsTer?