Canonical Allele Identifier: CA860196594

Gene: ENG

Linked Data

• dbSNP Id: rs71380096
• gnomAD v3: 9-127824512-CTT-C
• gnomAD v4: 9-127824512-CTT-C
• MyVariant Identifiers: chr9:g.130586792_130586793del (hg19) ; chr9:g.127824513_127824514del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824535_127824536del , CM000671.2:g.127824535_127824536del	GRCh38
NC_000009.11:g.130586814_130586815del , CM000671.1:g.130586814_130586815del	GRCh37
NC_000009.10:g.129626635_129626636del	NCBI36
NG_009551.1:g.35255_35256del , LRG_589:g.35255_35256del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.446-68_446-67del	ENSP00000479015.1:n.446-68_446-67del
ENST00000373203.9:c.992-68_992-67del MANE Select	ENSP00000362299.4:n.992-68_992-67del
ENST00000344849.4:c.992-68_992-67del	ENSP00000341917.3:n.992-68_992-67del
ENST00000373203.8:c.992-68_992-67del	ENSP00000362299.4:n.992-68_992-67del
ENST00000480266.5:c.446-68_446-67del	ENSP00000479015.1:n.446-68_446-67del
NM_000118.3:c.992-68_992-67del , LRG_589t1:c.992-68_992-67del	NP_000109.1:n.992-68_992-67del
NM_001114753.2:c.992-68_992-67del , LRG_589t2:c.992-68_992-67del	NP_001108225.1:n.992-68_992-67del
NM_001278138.1:c.446-68_446-67del	NP_001265067.1:n.446-68_446-67del
NM_001114753.3:c.992-68_992-67del MANE Select	NP_001108225.1:n.992-68_992-67del
NM_001278138.2:c.446-68_446-67del	NP_001265067.1:n.446-68_446-67del