Canonical Allele Identifier: CA2695211260

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127818823_127818830dup , CM000671.2:g.127818823_127818830dup	GRCh38
NC_000009.11:g.130581102_130581109dup , CM000671.1:g.130581102_130581109dup	GRCh37
NC_000009.10:g.129620923_129620930dup	NCBI36
NG_009551.1:g.40940_40947dup , LRG_589:g.40940_40947dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.769_776dup	ENSP00000479015.1:p.His259GlnfsTer?
ENST00000373203.9:c.1315_1322dup MANE Select	ENSP00000362299.4:p.His441GlnfsTer?
ENST00000344849.4:c.1315_1322dup	ENSP00000341917.3:p.His441GlnfsTer?
ENST00000373203.8:c.1315_1322dup	ENSP00000362299.4:p.His441GlnfsTer?
ENST00000480266.5:c.769_776dup	ENSP00000479015.1:p.His259GlnfsTer?
NM_000118.3:c.1315_1322dup , LRG_589t1:c.1315_1322dup	NP_000109.1:p.His441GlnfsTer?
NM_001114753.2:c.1315_1322dup , LRG_589t2:c.1315_1322dup	NP_001108225.1:p.His441GlnfsTer?
NM_001278138.1:c.769_776dup	NP_001265067.1:p.His259GlnfsTer?
NR_136302.1:n.1568+112_1568+119dup
NM_001114753.3:c.1315_1322dup MANE Select	NP_001108225.1:p.His441GlnfsTer?
NM_001278138.2:c.769_776dup	NP_001265067.1:p.His259GlnfsTer?