Canonical Allele Identifier: CA860194277

Gene: ENG

Linked Data

• dbSNP Id: rs1373182179
• gnomAD v3: 9-127820267-C-CA
• gnomAD v4: 9-127820267-C-CA
• MyVariant Identifiers: chr9:g.130582546_130582547insA (hg19) ; chr9:g.127820267_127820268insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127820268dup , CM000671.2:g.127820268dup	GRCh38
NC_000009.11:g.130582547dup , CM000671.1:g.130582547dup	GRCh37
NC_000009.10:g.129622368dup	NCBI36
NG_009551.1:g.39501dup , LRG_589:g.39501dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.589-231dup	ENSP00000479015.1:n.589-231dup
ENST00000373203.9:c.1135-231dup MANE Select	ENSP00000362299.4:n.1135-231dup
ENST00000344849.4:c.1135-231dup	ENSP00000341917.3:n.1135-231dup
ENST00000373203.8:c.1135-231dup	ENSP00000362299.4:n.1135-231dup
ENST00000480266.5:c.589-231dup	ENSP00000479015.1:n.589-231dup
ENST00000486329.1:n.103-231dup
NM_000118.3:c.1135-231dup , LRG_589t1:c.1135-231dup	NP_000109.1:n.1135-231dup
NM_001114753.2:c.1135-231dup , LRG_589t2:c.1135-231dup	NP_001108225.1:n.1135-231dup
NM_001278138.1:c.589-231dup	NP_001265067.1:n.589-231dup
NR_136302.1:n.1569-927dup
NM_001114753.3:c.1135-231dup MANE Select	NP_001108225.1:n.1135-231dup
NM_001278138.2:c.589-231dup	NP_001265067.1:n.589-231dup