Canonical Allele Identifier: CA2580079620

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824336_127824339del , CM000671.2:g.127824336_127824339del	GRCh38
NC_000009.11:g.130586615_130586618del , CM000671.1:g.130586615_130586618del	GRCh37
NC_000009.10:g.129626436_129626439del	NCBI36
NG_009551.1:g.35430_35433del , LRG_589:g.35430_35433del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.553_556del	ENSP00000479015.1:p.Ala185Ter
ENST00000373203.9:c.1099_1102del MANE Select	ENSP00000362299.4:p.Ala367Ter
ENST00000344849.4:c.1099_1102del	ENSP00000341917.3:p.Ala367Ter
ENST00000373203.8:c.1099_1102del	ENSP00000362299.4:p.Ala367Ter
ENST00000480266.5:c.553_556del	ENSP00000479015.1:p.Ala185Ter
ENST00000486329.1:n.67_70del
NM_000118.3:c.1099_1102del , LRG_589t1:c.1099_1102del	NP_000109.1:p.Ala367Ter
NM_001114753.2:c.1099_1102del , LRG_589t2:c.1099_1102del	NP_001108225.1:p.Ala367Ter
NM_001278138.1:c.553_556del	NP_001265067.1:p.Ala185Ter
NM_001114753.3:c.1099_1102del MANE Select	NP_001108225.1:p.Ala367Ter
NM_001278138.2:c.553_556del	NP_001265067.1:p.Ala185Ter