Canonical Allele Identifier: CA1139661208

Gene: ENG

Linked Data

• ClinVar Variation Id: 982484
• ClinVar RCV Id: RCV001262077
• dbSNP Id: rs1830569401

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824890_127824892delinsG , CM000671.2:g.127824890_127824892delinsG	GRCh38
NC_000009.11:g.130587169_130587171delinsG , CM000671.1:g.130587169_130587171delinsG	GRCh37
NC_000009.10:g.129626990_129626992delinsG	NCBI36
NG_009551.1:g.34877_34879delinsC , LRG_589:g.34877_34879delinsC

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.353_355delinsC	ENSP00000479015.1:p.Leu118ProfsTer?
ENST00000373203.9:c.899_901delinsC MANE Select	ENSP00000362299.4:p.Leu300ProfsTer?
ENST00000344849.4:c.899_901delinsC	ENSP00000341917.3:p.Leu300ProfsTer?
ENST00000373203.8:c.899_901delinsC	ENSP00000362299.4:p.Leu300ProfsTer?
ENST00000480266.5:c.353_355delinsC	ENSP00000479015.1:p.Leu118ProfsTer?
NM_000118.3:c.899_901delinsC , LRG_589t1:c.899_901delinsC	NP_000109.1:p.Leu300ProfsTer?
NM_001114753.2:c.899_901delinsC , LRG_589t2:c.899_901delinsC	NP_001108225.1:p.Leu300ProfsTer?
NM_001278138.1:c.353_355delinsC	NP_001265067.1:p.Leu118ProfsTer?
NM_001114753.3:c.899_901delinsC MANE Select	NP_001108225.1:p.Leu300ProfsTer?
NM_001278138.2:c.353_355delinsC	NP_001265067.1:p.Leu118ProfsTer?