Canonical Allele Identifier: CA2691805752

Gene: ENG

Linked Data

• gnomAD v4: 9-127815815-GGGAGCGGGGGCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815818_127815829del , CM000671.2:g.127815818_127815829del	GRCh38
NC_000009.11:g.130578097_130578108del , CM000671.1:g.130578097_130578108del	GRCh37
NC_000009.10:g.129617918_129617929del	NCBI36
NG_009551.1:g.43942_43953del , LRG_589:g.43942_43953del
NG_023245.1:g.17944_17955del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1307-21_1307-10del	ENSP00000479015.1:n.1307-21_1307-10del
ENST00000373203.9:c.1853-21_1853-10del MANE Select	ENSP00000362299.4:n.1853-21_1853-10del
ENST00000344849.4:c.*90_*101del	ENSP00000341917.3:n.*90_*101del
ENST00000373203.8:c.1853-21_1853-10del	ENSP00000362299.4:n.1853-21_1853-10del
ENST00000480266.5:c.1307-21_1307-10del	ENSP00000479015.1:n.1307-21_1307-10del
NM_000118.3:c.*90_*101del , LRG_589t1:c.*90_*101del	NP_000109.1:n.*90_*101del
NM_001114753.2:c.1853-21_1853-10del , LRG_589t2:c.1853-21_1853-10del	NP_001108225.1:n.1853-21_1853-10del
NM_001278138.1:c.1307-21_1307-10del	NP_001265067.1:n.1307-21_1307-10del
NM_001114753.3:c.1853-21_1853-10del MANE Select	NP_001108225.1:n.1853-21_1853-10del
NM_001278138.2:c.1307-21_1307-10del	NP_001265067.1:n.1307-21_1307-10del