Canonical Allele Identifier: CA2603096466

Gene: ENG

Linked Data

• gnomAD v3: 9-127815196-GCTC-G
• gnomAD v4: 9-127815196-GCTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815199_127815201del , CM000671.2:g.127815199_127815201del	GRCh38
NC_000009.11:g.130577478_130577480del , CM000671.1:g.130577478_130577480del	GRCh37
NC_000009.10:g.129617299_129617301del	NCBI36
NG_009551.1:g.44570_44572del , LRG_589:g.44570_44572del
NG_023245.1:g.17325_17327del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.*483_*485del	ENSP00000479015.1:n.*483_*485del
ENST00000373203.9:c.*483_*485del MANE Select	ENSP00000362299.4:n.*483_*485del
ENST00000344849.4:c.*718_*720del	ENSP00000341917.3:n.*718_*720del
ENST00000373203.8:c.*483_*485del	ENSP00000362299.4:n.*483_*485del
ENST00000480266.5:c.*483_*485del	ENSP00000479015.1:n.*483_*485del
NM_000118.3:c.*718_*720del , LRG_589t1:c.*718_*720del	NP_000109.1:n.*718_*720del
NM_001114753.2:c.*483_*485del , LRG_589t2:c.*483_*485del	NP_001108225.1:n.*483_*485del
NM_001278138.1:c.*483_*485del	NP_001265067.1:n.*483_*485del
NM_001114753.3:c.*483_*485del MANE Select	NP_001108225.1:n.*483_*485del
NM_001278138.2:c.*483_*485del	NP_001265067.1:n.*483_*485del