Canonical Allele Identifier: CA915947173

Gene: ENG

Linked Data

• ClinVar Variation Id: 665098
• ClinVar RCV Id: RCV000823308
• dbSNP Id: rs1588581338

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824807_127824808delinsCT , CM000671.2:g.127824807_127824808delinsCT	GRCh38
NC_000009.11:g.130587086_130587087delinsCT , CM000671.1:g.130587086_130587087delinsCT	GRCh37
NC_000009.10:g.129626907_129626908delinsCT	NCBI36
NG_009551.1:g.34961_34962delinsAG , LRG_589:g.34961_34962delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.437_438delinsAG	ENSP00000479015.1:p.Ser146Ter
ENST00000373203.9:c.983_984delinsAG MANE Select	ENSP00000362299.4:p.Ser328Ter
ENST00000344849.4:c.983_984delinsAG	ENSP00000341917.3:p.Ser328Ter
ENST00000373203.8:c.983_984delinsAG	ENSP00000362299.4:p.Ser328Ter
ENST00000480266.5:c.437_438delinsAG	ENSP00000479015.1:p.Ser146Ter
NM_000118.3:c.983_984delinsAG , LRG_589t1:c.983_984delinsAG	NP_000109.1:p.Ser328Ter
NM_001114753.2:c.983_984delinsAG , LRG_589t2:c.983_984delinsAG	NP_001108225.1:p.Ser328Ter
NM_001278138.1:c.437_438delinsAG	NP_001265067.1:p.Ser146Ter
NM_001114753.3:c.983_984delinsAG MANE Select	NP_001108225.1:p.Ser328Ter
NM_001278138.2:c.437_438delinsAG	NP_001265067.1:p.Ser146Ter