Canonical Allele Identifier: CA915947169

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127819919_127819922dup , CM000671.2:g.127819919_127819922dup	GRCh38
NC_000009.11:g.130582198_130582201dup , CM000671.1:g.130582198_130582201dup	GRCh37
NC_000009.10:g.129622019_129622022dup	NCBI36
NG_009551.1:g.39847_39850dup , LRG_589:g.39847_39850dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001114753.3:c.1250_1253dup MANE Select	NP_001108225.1:p.Met420LysfsTer6
ENST00000373203.9:c.1250_1253dup MANE Select	ENSP00000362299.4:p.Met420LysfsTer6
NM_000118.3:c.1250_1253dup , LRG_589t1:c.1250_1253dup	NP_000109.1:p.Met420LysfsTer6
NM_001114753.2:c.1250_1253dup , LRG_589t2:c.1250_1253dup	NP_001108225.1:p.Met420LysfsTer6
NM_001278138.1:c.704_707dup	NP_001265067.1:p.Met238LysfsTer6
NM_001278138.2:c.704_707dup	NP_001265067.1:p.Met238LysfsTer6
NR_136302.1:n.1568+1208_1568+1211dup
ENST00000344849.4:c.1250_1253dup	ENSP00000341917.3:p.Met420LysfsTer6
ENST00000373203.8:c.1250_1253dup	ENSP00000362299.4:p.Met420LysfsTer6
ENST00000480266.5:c.704_707dup	ENSP00000479015.1:p.Met238LysfsTer6
ENST00000480266.6:c.704_707dup	ENSP00000479015.1:p.Met238LysfsTer6
ENST00000486329.1:n.218_221dup