Canonical Allele Identifier: CA2573143975

Gene: ENG

Linked Data

• ClinVar Variation Id: 1432409
• ClinVar RCV Id: RCV001941245
• dbSNP Id: rs2131887656

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825250_127825258del , CM000671.2:g.127825250_127825258del	GRCh38
NC_000009.11:g.130587529_130587537del , CM000671.1:g.130587529_130587537del	GRCh37
NC_000009.10:g.129627350_129627358del	NCBI36
NG_009551.1:g.34512_34520del , LRG_589:g.34512_34520del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.244_252del	ENSP00000479015.1:p.Asp82_Asn84del
ENST00000373203.9:c.790_798del MANE Select	ENSP00000362299.4:p.Asp264_Asn266del
ENST00000344849.4:c.790_798del	ENSP00000341917.3:p.Asp264_Asn266del
ENST00000373203.8:c.790_798del	ENSP00000362299.4:p.Asp264_Asn266del
ENST00000480266.5:c.244_252del	ENSP00000479015.1:p.Asp82_Asn84del
NM_000118.3:c.790_798del , LRG_589t1:c.790_798del	NP_000109.1:p.Asp264_Asn266del
NM_001114753.2:c.790_798del , LRG_589t2:c.790_798del	NP_001108225.1:p.Asp264_Asn266del
NM_001278138.1:c.244_252del	NP_001265067.1:p.Asp82_Asn84del
NM_001114753.3:c.790_798del MANE Select	NP_001108225.1:p.Asp264_Asn266del
NM_001278138.2:c.244_252del	NP_001265067.1:p.Asp82_Asn84del