Canonical Allele Identifier: CA2580079605

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127817157_127817161del , CM000671.2:g.127817157_127817161del	GRCh38
NC_000009.11:g.130579436_130579440del , CM000671.1:g.130579436_130579440del	GRCh37
NC_000009.10:g.129619257_129619261del	NCBI36
NG_009551.1:g.42612_42616del , LRG_589:g.42612_42616del

Transcript Alleles

HGVS	Amino-acid Change
NM_001114753.3:c.1733_1737del MANE Select	NP_001108225.1:p.Asp578ValfsTer?
ENST00000373203.9:c.1733_1737del MANE Select	ENSP00000362299.4:p.Asp578ValfsTer?
NM_000118.3:c.1733_1737del , LRG_589t1:c.1733_1737del	NP_000109.1:p.Asp578ValfsTer?
NM_001114753.2:c.1733_1737del , LRG_589t2:c.1733_1737del	NP_001108225.1:p.Asp578ValfsTer?
NM_001278138.1:c.1187_1191del	NP_001265067.1:p.Asp396ValfsTer?
NM_001278138.2:c.1187_1191del	NP_001265067.1:p.Asp396ValfsTer?
NR_136302.1:n.1092_1096del
ENST00000344849.4:c.1733_1737del	ENSP00000341917.3:p.Asp578ValfsTer?
ENST00000373203.8:c.1733_1737del	ENSP00000362299.4:p.Asp578ValfsTer?
ENST00000480266.5:c.1187_1191del	ENSP00000479015.1:p.Asp396ValfsTer?
ENST00000480266.6:c.1187_1191del	ENSP00000479015.1:p.Asp396ValfsTer?
XM_011519273.1:c.579_583del	XP_011517575.1:p.Gln194LeufsTer?