Canonical Allele Identifier: CA590939463

Gene: ENG

Linked Data

• dbSNP Id: rs1243504850
• gnomAD v2: 9-130580951-TC-T
• gnomAD v4: 9-127818672-TC-T
• MyVariant Identifiers: chr9:g.130580952del (hg19) ; chr9:g.127818673del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127818674del , CM000671.2:g.127818674del	GRCh38
NC_000009.11:g.130580953del , CM000671.1:g.130580953del	GRCh37
NC_000009.10:g.129620774del	NCBI36
NG_009551.1:g.41096del , LRG_589:g.41096del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.882+43del	ENSP00000479015.1:n.882+43del
ENST00000373203.9:c.1428+43del MANE Select	ENSP00000362299.4:n.1428+43del
ENST00000344849.4:c.1428+43del	ENSP00000341917.3:n.1428+43del
ENST00000373203.8:c.1428+43del	ENSP00000362299.4:n.1428+43del
ENST00000480266.5:c.882+43del	ENSP00000479015.1:n.882+43del
NM_000118.3:c.1428+43del , LRG_589t1:c.1428+43del	NP_000109.1:n.1428+43del
NM_001114753.2:c.1428+43del , LRG_589t2:c.1428+43del	NP_001108225.1:n.1428+43del
NM_001278138.1:c.882+43del	NP_001265067.1:n.882+43del
NR_136302.1:n.1531del
NM_001114753.3:c.1428+43del MANE Select	NP_001108225.1:n.1428+43del
NM_001278138.2:c.882+43del	NP_001265067.1:n.882+43del