Canonical Allele Identifier: CA2691805235

Gene: ENG

Linked Data

• gnomAD v4: 9-127815219-GTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815220_127815221del , CM000671.2:g.127815220_127815221del	GRCh38
NC_000009.11:g.130577499_130577500del , CM000671.1:g.130577499_130577500del	GRCh37
NC_000009.10:g.129617320_129617321del	NCBI36
NG_009551.1:g.44548_44549del , LRG_589:g.44548_44549del
NG_023245.1:g.17346_17347del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.*461_*462del	ENSP00000479015.1:n.*461_*462del
ENST00000373203.9:c.*461_*462del MANE Select	ENSP00000362299.4:n.*461_*462del
ENST00000344849.4:c.*696_*697del	ENSP00000341917.3:n.*696_*697del
ENST00000373203.8:c.*461_*462del	ENSP00000362299.4:n.*461_*462del
ENST00000480266.5:c.*461_*462del	ENSP00000479015.1:n.*461_*462del
NM_000118.3:c.*696_*697del , LRG_589t1:c.*696_*697del	NP_000109.1:n.*696_*697del
NM_001114753.2:c.*461_*462del , LRG_589t2:c.*461_*462del	NP_001108225.1:n.*461_*462del
NM_001278138.1:c.*461_*462del	NP_001265067.1:n.*461_*462del
NM_001114753.3:c.*461_*462del MANE Select	NP_001108225.1:n.*461_*462del
NM_001278138.2:c.*461_*462del	NP_001265067.1:n.*461_*462del