Canonical Allele Identifier: CA1879973475

Gene: ENG

Linked Data

• ClinVar Variation Id: 1005787
• ClinVar RCV Id: RCV001302726
• dbSNP Id: rs1830567220

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824838_127824843del , CM000671.2:g.127824838_127824843del	GRCh38
NC_000009.11:g.130587117_130587122del , CM000671.1:g.130587117_130587122del	GRCh37
NC_000009.10:g.129626938_129626943del	NCBI36
NG_009551.1:g.34929_34934del , LRG_589:g.34929_34934del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.405_410del	ENSP00000479015.1:p.Pro136_Leu137del
ENST00000373203.9:c.951_956del MANE Select	ENSP00000362299.4:p.Pro318_Leu319del
ENST00000344849.4:c.951_956del	ENSP00000341917.3:p.Pro318_Leu319del
ENST00000373203.8:c.951_956del	ENSP00000362299.4:p.Pro318_Leu319del
ENST00000480266.5:c.405_410del	ENSP00000479015.1:p.Pro136_Leu137del
NM_000118.3:c.951_956del , LRG_589t1:c.951_956del	NP_000109.1:p.Pro318_Leu319del
NM_001114753.2:c.951_956del , LRG_589t2:c.951_956del	NP_001108225.1:p.Pro318_Leu319del
NM_001278138.1:c.405_410del	NP_001265067.1:p.Pro136_Leu137del
NM_001114753.3:c.951_956del MANE Select	NP_001108225.1:p.Pro318_Leu319del
NM_001278138.2:c.405_410del	NP_001265067.1:p.Pro136_Leu137del