Canonical Allele Identifier: CA590939374

Gene: ENG

Linked Data

• dbSNP Id: rs1564451156
• gnomAD v2: 9-130578188-CGGCATGCTCACTGTGGGGGCCT-C
• gnomAD v3: 9-127815909-CGGCATGCTCACTGTGGGGGCCT-C
• gnomAD v4: 9-127815909-CGGCATGCTCACTGTGGGGGCCT-C
• MyVariant Identifiers: chr9:g.130578189_130578210del (hg19) ; chr9:g.127815910_127815931del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815912_127815933del , CM000671.2:g.127815912_127815933del	GRCh38
NC_000009.11:g.130578191_130578212del , CM000671.1:g.130578191_130578212del	GRCh37
NC_000009.10:g.129618012_129618033del	NCBI36
NG_009551.1:g.43838_43859del , LRG_589:g.43838_43859del
NG_023245.1:g.18038_18059del

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.1306+12_1306+33del	ENSP00000479015.1:n.1306+12_1306+33del
ENST00000373203.9:c.1852+12_1852+33del MANE Select	ENSP00000362299.4:n.1852+12_1852+33del
ENST00000344849.4:c.1864_*7del	ENSP00000341917.3:n.[c.1864_*7del;Arg622G...
ENST00000373203.8:c.1852+12_1852+33del	ENSP00000362299.4:n.1852+12_1852+33del
ENST00000480266.5:c.1306+12_1306+33del	ENSP00000479015.1:n.1306+12_1306+33del
NM_000118.3:c.1864_*7del , LRG_589t1:c.1864_*7del	NP_000109.1:n.[c.1864_*7del;Arg622GlyfsTe...
NM_001114753.2:c.1852+12_1852+33del , LRG_589t2:c.1852+12_1852+33del	NP_001108225.1:n.1852+12_1852+33del
NM_001278138.1:c.1306+12_1306+33del	NP_001265067.1:n.1306+12_1306+33del
NM_001114753.3:c.1852+12_1852+33del MANE Select	NP_001108225.1:n.1852+12_1852+33del
NM_001278138.2:c.1306+12_1306+33del	NP_001265067.1:n.1306+12_1306+33del