Canonical Allele Identifier: CA1879998689

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127854304_127854315delinsTGCAGCTGGCCA , CM000671.2:g.127854304_127854315delinsTGCAGCTGGCCA	GRCh38
NC_000009.11:g.130616583_130616594delinsTGCAGCTGGCCA , CM000671.1:g.130616583_130616594delinsTGCAGCTGGCCA	GRCh37
NC_000009.10:g.129656404_129656415delinsTGCAGCTGGCCA	NCBI36
NG_009551.1:g.5454_5465delinsTGGCCAGCTGCA , LRG_589:g.5454_5465delinsTGGCCAGCTGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373203.9:c.41_52delinsTGGCCAGCTGCA MANE Select	ENSP00000362299.4:p.Leu14=
ENST00000344849.4:c.41_52delinsTGGCCAGCTGCA	ENSP00000341917.3:p.Leu14=
ENST00000373203.8:c.41_52delinsTGGCCAGCTGCA	ENSP00000362299.4:p.Leu14=
NM_000118.3:c.41_52delinsTGGCCAGCTGCA , LRG_589t1:c.41_52delinsTGGCCAGCTGCA	NP_000109.1:p.Leu14=
NM_001114753.2:c.41_52delinsTGGCCAGCTGCA , LRG_589t2:c.41_52delinsTGGCCAGCTGCA	NP_001108225.1:p.Leu14=
NM_001114753.3:c.41_52delinsTGGCCAGCTGCA MANE Select	NP_001108225.1:p.Leu14=