Canonical Allele Identifier: CA1879981359

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127829448_127829461delinsGCACATCAACCTGA , CM000671.2:g.127829448_127829461delinsGCACATCAACCTGA	GRCh38
NC_000009.11:g.130591727_130591740delinsGCACATCAACCTGA , CM000671.1:g.130591727_130591740delinsGCACATCAACCTGA	GRCh37
NC_000009.10:g.129631548_129631561delinsGCACATCAACCTGA	NCBI36
NG_009551.1:g.30308_30321delinsTCAGGTTGATGTGC , LRG_589:g.30308_30321delinsTCAGGTTGATGTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.-187+226_-187+239delinsTCAGGTTGATGTGC	ENSP00000479015.1:n.-187+226_-187+239delinsTCAGGTTGATGTGC
ENST00000373203.9:c.360+226_360+239delinsTCAGGTTGATGTGC MANE Select	ENSP00000362299.4:n.360+226_360+239delinsTCAGGTTGATGTGC
ENST00000344849.4:c.360+226_360+239delinsTCAGGTTGATGTGC	ENSP00000341917.3:n.360+226_360+239delinsTCAGGTTGATGTGC
ENST00000373203.8:c.360+226_360+239delinsTCAGGTTGATGTGC	ENSP00000362299.4:n.360+226_360+239delinsTCAGGTTGATGTGC
ENST00000462196.1:n.118+226_118+239delinsTCAGGTTGATGTGC
ENST00000480266.5:c.-187+226_-187+239delinsTCAGGTTGATGTGC	ENSP00000479015.1:n.-187+226_-187+239delinsTCAGGTTGATGTGC
NM_000118.3:c.360+226_360+239delinsTCAGGTTGATGTGC , LRG_589t1:c.360+226_360+239delinsTCAGGTTGATGTGC	NP_000109.1:n.360+226_360+239delinsTCAGGTTGATGTGC
NM_001114753.2:c.360+226_360+239delinsTCAGGTTGATGTGC , LRG_589t2:c.360+226_360+239delinsTCAGGTTGATGTGC	NP_001108225.1:n.360+226_360+239delinsTCAGGTTGATGTGC
NM_001278138.1:c.-187+226_-187+239delinsTCAGGTTGATGTGC	NP_001265067.1:n.-187+226_-187+239delinsTCAGGTTGATGTGC
XR_001746952.2:n.83-2950_83-2937delinsGCACATCAACCTGA
NM_001114753.3:c.360+226_360+239delinsTCAGGTTGATGTGC MANE Select	NP_001108225.1:n.360+226_360+239delinsTCAGGTTGATGTGC
NM_001278138.2:c.-187+226_-187+239delinsTCAGGTTGATGTGC	NP_001265067.1:n.-187+226_-187+239delinsTCAGGTTGATGTGC