Canonical Allele Identifier: CA2691805756

Gene: ENG

Linked Data

• gnomAD v4: 9-127815820-C-CGG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815824_127815825dup , CM000671.2:g.127815824_127815825dup	GRCh38
NC_000009.11:g.130578103_130578104dup , CM000671.1:g.130578103_130578104dup	GRCh37
NC_000009.10:g.129617924_129617925dup	NCBI36
NG_009551.1:g.43947_43948dup , LRG_589:g.43947_43948dup
NG_023245.1:g.17950_17951dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1307-16_1307-15dup	ENSP00000479015.1:n.1307-16_1307-15dup
ENST00000373203.9:c.1853-16_1853-15dup MANE Select	ENSP00000362299.4:n.1853-16_1853-15dup
ENST00000344849.4:c.*95_*96dup	ENSP00000341917.3:n.*95_*96dup
ENST00000373203.8:c.1853-16_1853-15dup	ENSP00000362299.4:n.1853-16_1853-15dup
ENST00000480266.5:c.1307-16_1307-15dup	ENSP00000479015.1:n.1307-16_1307-15dup
NM_000118.3:c.*95_*96dup , LRG_589t1:c.*95_*96dup	NP_000109.1:n.*95_*96dup
NM_001114753.2:c.1853-16_1853-15dup , LRG_589t2:c.1853-16_1853-15dup	NP_001108225.1:n.1853-16_1853-15dup
NM_001278138.1:c.1307-16_1307-15dup	NP_001265067.1:n.1307-16_1307-15dup
NM_001114753.3:c.1853-16_1853-15dup MANE Select	NP_001108225.1:n.1853-16_1853-15dup
NM_001278138.2:c.1307-16_1307-15dup	NP_001265067.1:n.1307-16_1307-15dup