Canonical Allele Identifier: CA1139659926

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127817195del , CM000671.2:g.127817195del	GRCh38
NC_000009.11:g.130579474del , CM000671.1:g.130579474del	GRCh37
NC_000009.10:g.129619295del	NCBI36
NG_009551.1:g.42574del , LRG_589:g.42574del

Transcript Alleles

HGVS	Amino-acid Change
NM_001114753.3:c.1695del MANE Select	NP_001108225.1:p.His565GlnfsTer8
ENST00000373203.9:c.1695del MANE Select	ENSP00000362299.4:p.His565GlnfsTer8
NM_000118.3:c.1695del , LRG_589t1:c.1695del	NP_000109.1:p.His565GlnfsTer8
NM_001114753.2:c.1695del , LRG_589t2:c.1695del	NP_001108225.1:p.His565GlnfsTer8
NM_001278138.1:c.1149del	NP_001265067.1:p.His383GlnfsTer8
NM_001278138.2:c.1149del	NP_001265067.1:p.His383GlnfsTer8
NR_136302.1:n.1130del
ENST00000344849.4:c.1695del	ENSP00000341917.3:p.His565GlnfsTer8
ENST00000373203.8:c.1695del	ENSP00000362299.4:p.His565GlnfsTer8
ENST00000480266.5:c.1149del	ENSP00000479015.1:p.His383GlnfsTer8
ENST00000480266.6:c.1149del	ENSP00000479015.1:p.His383GlnfsTer8