Canonical Allele Identifier: CA2691805857

Gene: ENG

Linked Data

• gnomAD v4: 9-127816020-ACGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127816024_127816026del , CM000671.2:g.127816024_127816026del	GRCh38
NC_000009.11:g.130578303_130578305del , CM000671.1:g.130578303_130578305del	GRCh37
NC_000009.10:g.129618124_129618126del	NCBI36
NG_009551.1:g.43746_43748del , LRG_589:g.43746_43748del
NG_023245.1:g.18150_18152del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1226_1228del	ENSP00000479015.1:p.Ala409del
ENST00000373203.9:c.1772_1774del MANE Select	ENSP00000362299.4:p.Ala591del
ENST00000344849.4:c.1772_1774del	ENSP00000341917.3:p.Ala591del
ENST00000373203.8:c.1772_1774del	ENSP00000362299.4:p.Ala591del
ENST00000480266.5:c.1226_1228del	ENSP00000479015.1:p.Ala409del
NM_000118.3:c.1772_1774del , LRG_589t1:c.1772_1774del	NP_000109.1:p.Ala591del
NM_001114753.2:c.1772_1774del , LRG_589t2:c.1772_1774del	NP_001108225.1:p.Ala591del
NM_001278138.1:c.1226_1228del	NP_001265067.1:p.Ala409del
NM_001114753.3:c.1772_1774del MANE Select	NP_001108225.1:p.Ala591del
NM_001278138.2:c.1226_1228del	NP_001265067.1:p.Ala409del