Canonical Allele Identifier: CA1879972619

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824377_127824409delinsAGCTCCGGGCTACAAGTGTCCTTGGGAGGAGTG , CM000671.2:g.127824377_127824409delinsAGCTCCGGGCTACAAGTGTCCTTGGGAGGAGTG	GRCh38
NC_000009.11:g.130586656_130586688delinsAGCTCCGGGCTACAAGTGTCCTTGGGAGGAGTG , CM000671.1:g.130586656_130586688delinsAGCTCCGGGCTACAAGTGTCCTTGGGAGGAGTG	GRCh37
NC_000009.10:g.129626477_129626509delinsAGCTCCGGGCTACAAGTGTCCTTGGGAGGAGTG	NCBI36
NG_009551.1:g.35360_35392delinsCACTCCTCCCAAGGACACTTGTAGCCCGGAGCT , LRG_589:g.35360_35392delinsCACTCCTCCCAAGGACACTTGTAGCCCGGAGCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.483_515delinsCACTCCTCCCAAGGACACTTGTAGCCCGGAGCT	ENSP00000479015.1:p.Thr161=
ENST00000373203.9:c.1029_1061delinsCACTCCTCCCAAGGACACTTGTAGCCCGGAGCT MANE Select	ENSP00000362299.4:p.Thr343=
ENST00000344849.4:c.1029_1061delinsCACTCCTCCCAAGGACACTTGTAGCCCGGAGCT	ENSP00000341917.3:p.Thr343=
ENST00000373203.8:c.1029_1061delinsCACTCCTCCCAAGGACACTTGTAGCCCGGAGCT	ENSP00000362299.4:p.Thr343=
ENST00000480266.5:c.483_515delinsCACTCCTCCCAAGGACACTTGTAGCCCGGAGCT	ENSP00000479015.1:p.Thr161=
NM_000118.3:c.1029_1061delinsCACTCCTCCCAAGGACACTTGTAGCCCGGAGCT , LRG_589t1:c.1029_1061delinsCACTCCTCCCAAGGACACTTGTAGCCCGGAGCT	NP_000109.1:p.Thr343=
NM_001114753.2:c.1029_1061delinsCACTCCTCCCAAGGACACTTGTAGCCCGGAGCT , LRG_589t2:c.1029_1061delinsCACTCCTCCCAAGGACACTTGTAGCCCGGAGCT	NP_001108225.1:p.Thr343=
NM_001278138.1:c.483_515delinsCACTCCTCCCAAGGACACTTGTAGCCCGGAGCT	NP_001265067.1:p.Thr161=
NM_001114753.3:c.1029_1061delinsCACTCCTCCCAAGGACACTTGTAGCCCGGAGCT MANE Select	NP_001108225.1:p.Thr343=
NM_001278138.2:c.483_515delinsCACTCCTCCCAAGGACACTTGTAGCCCGGAGCT	NP_001265067.1:p.Thr161=