Canonical Allele Identifier: CA915940734

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127818191_127818192del , CM000671.2:g.127818191_127818192del	GRCh38
NC_000009.11:g.130580470_130580471del , CM000671.1:g.130580470_130580471del	GRCh37
NC_000009.10:g.129620291_129620292del	NCBI36
NG_009551.1:g.41577_41578del , LRG_589:g.41577_41578del

Transcript Alleles

HGVS	Amino-acid Change
NM_001114753.3:c.1614_1615del MANE Select	NP_001108225.1:p.Val539ThrfsTer27
ENST00000373203.9:c.1614_1615del MANE Select	ENSP00000362299.4:p.Val539ThrfsTer27
NM_000118.3:c.1614_1615del , LRG_589t1:c.1614_1615del	NP_000109.1:p.Val539ThrfsTer27
NM_001114753.2:c.1614_1615del , LRG_589t2:c.1614_1615del	NP_001108225.1:p.Val539ThrfsTer27
NM_001278138.1:c.1068_1069del	NP_001265067.1:p.Val357ThrfsTer27
NM_001278138.2:c.1068_1069del	NP_001265067.1:p.Val357ThrfsTer27
NR_136302.1:n.1378-120_1378-119del
ENST00000344849.4:c.1614_1615del	ENSP00000341917.3:p.Val539ThrfsTer27
ENST00000373203.8:c.1614_1615del	ENSP00000362299.4:p.Val539ThrfsTer27
ENST00000480266.5:c.1068_1069del	ENSP00000479015.1:p.Val357ThrfsTer27
ENST00000480266.6:c.1068_1069del	ENSP00000479015.1:p.Val357ThrfsTer27