Canonical Allele Identifier: CA1879981547

Gene: ENG

Linked Data

• dbSNP Id: rs1830296261
• gnomAD v4: 9-127815835-A-AGGTCAGGGTCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815838_127815849dup , CM000671.2:g.127815838_127815849dup	GRCh38
NC_000009.11:g.130578117_130578128dup , CM000671.1:g.130578117_130578128dup	GRCh37
NC_000009.10:g.129617938_129617949dup	NCBI36
NG_009551.1:g.43922_43933dup , LRG_589:g.43922_43933dup
NG_023245.1:g.17964_17975dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1307-41_1307-30dup	ENSP00000479015.1:n.1307-41_1307-30dup
ENST00000373203.9:c.1853-41_1853-30dup MANE Select	ENSP00000362299.4:n.1853-41_1853-30dup
ENST00000344849.4:c.*70_*81dup	ENSP00000341917.3:n.*70_*81dup
ENST00000373203.8:c.1853-41_1853-30dup	ENSP00000362299.4:n.1853-41_1853-30dup
ENST00000480266.5:c.1307-41_1307-30dup	ENSP00000479015.1:n.1307-41_1307-30dup
NM_000118.3:c.*70_*81dup , LRG_589t1:c.*70_*81dup	NP_000109.1:n.*70_*81dup
NM_001114753.2:c.1853-41_1853-30dup , LRG_589t2:c.1853-41_1853-30dup	NP_001108225.1:n.1853-41_1853-30dup
NM_001278138.1:c.1307-41_1307-30dup	NP_001265067.1:n.1307-41_1307-30dup
NM_001114753.3:c.1853-41_1853-30dup MANE Select	NP_001108225.1:n.1853-41_1853-30dup
NM_001278138.2:c.1307-41_1307-30dup	NP_001265067.1:n.1307-41_1307-30dup