Canonical Allele Identifier: CA5253183

Gene: ENG

Linked Data

• dbSNP Id: rs768394838
• ExAC: 9:130592108 TG / T
• gnomAD v2: 9-130592108-TG-T
• gnomAD v4: 9-127829829-TG-T
• MyVariant Identifiers: chr9:g.130592109del (hg19) ; chr9:g.127829830del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127829834del , CM000671.2:g.127829834del	GRCh38
NC_000009.11:g.130592113del , CM000671.1:g.130592113del	GRCh37
NC_000009.10:g.129631934del	NCBI36
NG_009551.1:g.29939del , LRG_589:g.29939del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.-327-3del	ENSP00000479015.1:n.-327-3del
ENST00000373203.9:c.220-3del MANE Select	ENSP00000362299.4:n.220-3del
ENST00000344849.4:c.220-3del	ENSP00000341917.3:n.220-3del
ENST00000373203.8:c.220-3del	ENSP00000362299.4:n.220-3del
ENST00000480266.5:c.-327-3del	ENSP00000479015.1:n.-327-3del
NM_000118.3:c.220-3del , LRG_589t1:c.220-3del	NP_000109.1:n.220-3del
NM_001114753.2:c.220-3del , LRG_589t2:c.220-3del	NP_001108225.1:n.220-3del
NM_001278138.1:c.-327-3del	NP_001265067.1:n.-327-3del
XR_001746952.2:n.83-2564del
NM_001114753.3:c.220-3del MANE Select	NP_001108225.1:n.220-3del
NM_001278138.2:c.-327-3del	NP_001265067.1:n.-327-3del