Canonical Allele Identifier: CA2691806552

Gene: ENG

Linked Data

• gnomAD v4: 9-127819684-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127819686del , CM000671.2:g.127819686del	GRCh38
NC_000009.11:g.130581965del , CM000671.1:g.130581965del	GRCh37
NC_000009.10:g.129621786del	NCBI36
NG_009551.1:g.40084del , LRG_589:g.40084del

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.727-25del	ENSP00000479015.1:n.727-25del
ENST00000373203.9:c.1273-25del MANE Select	ENSP00000362299.4:n.1273-25del
ENST00000344849.4:c.1273-25del	ENSP00000341917.3:n.1273-25del
ENST00000373203.8:c.1273-25del	ENSP00000362299.4:n.1273-25del
ENST00000480266.5:c.727-25del	ENSP00000479015.1:n.727-25del
ENST00000486329.1:n.241-25del
NM_000118.3:c.1273-25del , LRG_589t1:c.1273-25del	NP_000109.1:n.1273-25del
NM_001114753.2:c.1273-25del , LRG_589t2:c.1273-25del	NP_001108225.1:n.1273-25del
NM_001278138.1:c.727-25del	NP_001265067.1:n.727-25del
NR_136302.1:n.1568+975del
NM_001114753.3:c.1273-25del MANE Select	NP_001108225.1:n.1273-25del
NM_001278138.2:c.727-25del	NP_001265067.1:n.727-25del