Canonical Allele Identifier: CA2691805746

Gene: ENG

Linked Data

• gnomAD v4: 9-127815807-C-CTGGGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815808_127815813dup , CM000671.2:g.127815808_127815813dup	GRCh38
NC_000009.11:g.130578087_130578092dup , CM000671.1:g.130578087_130578092dup	GRCh37
NC_000009.10:g.129617908_129617913dup	NCBI36
NG_009551.1:g.43956_43961dup , LRG_589:g.43956_43961dup
NG_023245.1:g.17934_17939dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1307-7_1307-2dup	ENSP00000479015.1:n.1307-7_1307-2dup
ENST00000373203.9:c.1853-7_1853-2dup MANE Select	ENSP00000362299.4:n.1853-7_1853-2dup
ENST00000344849.4:c.*104_*109dup	ENSP00000341917.3:n.*104_*109dup
ENST00000373203.8:c.1853-7_1853-2dup	ENSP00000362299.4:n.1853-7_1853-2dup
ENST00000480266.5:c.1307-7_1307-2dup	ENSP00000479015.1:n.1307-7_1307-2dup
NM_000118.3:c.*104_*109dup , LRG_589t1:c.*104_*109dup	NP_000109.1:n.*104_*109dup
NM_001114753.2:c.1853-7_1853-2dup , LRG_589t2:c.1853-7_1853-2dup	NP_001108225.1:n.1853-7_1853-2dup
NM_001278138.1:c.1307-7_1307-2dup	NP_001265067.1:n.1307-7_1307-2dup
NM_001114753.3:c.1853-7_1853-2dup MANE Select	NP_001108225.1:n.1853-7_1853-2dup
NM_001278138.2:c.1307-7_1307-2dup	NP_001265067.1:n.1307-7_1307-2dup