Canonical Allele Identifier: CA2499219637

Gene: ENG

Linked Data

• ClinVar Variation Id: 1063338
• ClinVar RCV Id: RCV001373164
• dbSNP Id: rs2131885993

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824408_127824409delinsGA , CM000671.2:g.127824408_127824409delinsGA	GRCh38
NC_000009.11:g.130586687_130586688delinsGA , CM000671.1:g.130586687_130586688delinsGA	GRCh37
NC_000009.10:g.129626508_129626509delinsGA	NCBI36
NG_009551.1:g.35360_35361delinsTC , LRG_589:g.35360_35361delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.483_484delinsTC	ENSP00000479015.1:p.Thr162Pro
ENST00000373203.9:c.1029_1030delinsTC MANE Select	ENSP00000362299.4:p.Thr344Pro
ENST00000344849.4:c.1029_1030delinsTC	ENSP00000341917.3:p.Thr344Pro
ENST00000373203.8:c.1029_1030delinsTC	ENSP00000362299.4:p.Thr344Pro
ENST00000480266.5:c.483_484delinsTC	ENSP00000479015.1:p.Thr162Pro
NM_000118.3:c.1029_1030delinsTC , LRG_589t1:c.1029_1030delinsTC	NP_000109.1:p.Thr344Pro
NM_001114753.2:c.1029_1030delinsTC , LRG_589t2:c.1029_1030delinsTC	NP_001108225.1:p.Thr344Pro
NM_001278138.1:c.483_484delinsTC	NP_001265067.1:p.Thr162Pro
NM_001114753.3:c.1029_1030delinsTC MANE Select	NP_001108225.1:p.Thr344Pro
NM_001278138.2:c.483_484delinsTC	NP_001265067.1:p.Thr162Pro