Canonical Allele Identifier: CA913184987

Gene: ENG

Linked Data

• ClinVar Variation Id: 16669
• ClinVar RCV Id: RCV000018149
• dbSNP Id: rs2131886961

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824872_127824910del , CM000671.2:g.127824872_127824910del	GRCh38
NC_000009.11:g.130587151_130587189del , CM000671.1:g.130587151_130587189del	GRCh37
NC_000009.10:g.129626972_129627010del	NCBI36
NG_009551.1:g.34860_34898del , LRG_589:g.34860_34898del

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.336_374del	ENSP00000479015.1:p.Thr113_Asn125del
ENST00000373203.9:c.882_920del MANE Select	ENSP00000362299.4:p.Thr295_Asn307del
ENST00000344849.4:c.882_920del	ENSP00000341917.3:p.Thr295_Asn307del
ENST00000373203.8:c.882_920del	ENSP00000362299.4:p.Thr295_Asn307del
ENST00000480266.5:c.336_374del	ENSP00000479015.1:p.Thr113_Asn125del
NM_000118.3:c.882_920del , LRG_589t1:c.882_920del	NP_000109.1:p.Thr295_Asn307del
NM_001114753.2:c.882_920del , LRG_589t2:c.882_920del	NP_001108225.1:p.Thr295_Asn307del
NM_001278138.1:c.336_374del	NP_001265067.1:p.Thr113_Asn125del
NM_001114753.3:c.882_920del MANE Select	NP_001108225.1:p.Thr295_Asn307del
NM_001278138.2:c.336_374del	NP_001265067.1:p.Thr113_Asn125del