Canonical Allele Identifier: CA2691805862

Gene: ENG

Linked Data

• gnomAD v4: 9-127816041-T-TGGGGTGGCAAAGAGGTAGGTGCCCCCATCCCTCACCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127816041_127816042insGGGGTGGCAAAGAGGTAGGTGCCCCCATCCCTCACCCC , CM000671.2:g.127816041_127816042insGGGGTGGCAAAGAGGTAGGTGCCCCCATCCCTCACCCC	GRCh38
NC_000009.11:g.130578320_130578321insGGGGTGGCAAAGAGGTAGGTGCCCCCATCCCTCACCCC , CM000671.1:g.130578320_130578321insGGGGTGGCAAAGAGGTAGGTGCCCCCATCCCTCACCCC	GRCh37
NC_000009.10:g.129618141_129618142insGGGGTGGCAAAGAGGTAGGTGCCCCCATCCCTCACCCC	NCBI36
NG_009551.1:g.43727_43728insGGGGTGAGGGATGGGGGCACCTACCTCTTTGCCACCCC , LRG_589:g.43727_43728insGGGGTGAGGGATGGGGGCACCTACCTCTTTGCCACCCC
NG_023245.1:g.18167_18168insGGGGTGGCAAAGAGGTAGGTGCCCCCATCCCTCACCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1207_1208insGGGGTGAGGGATGGGGGCACCTACCTCTTTGCCACCCC	ENSP00000479015.1:p.Lys403ArgfsTer?
ENST00000373203.9:c.1753_1754insGGGGTGAGGGATGGGGGCACCTACCTCTTTGCCACCCC MANE Select	ENSP00000362299.4:p.Lys585ArgfsTer?
ENST00000344849.4:c.1753_1754insGGGGTGAGGGATGGGGGCACCTACCTCTTTGCCACCCC	ENSP00000341917.3:p.Lys585ArgfsTer?
ENST00000373203.8:c.1753_1754insGGGGTGAGGGATGGGGGCACCTACCTCTTTGCCACCCC	ENSP00000362299.4:p.Lys585ArgfsTer?
ENST00000480266.5:c.1207_1208insGGGGTGAGGGATGGGGGCACCTACCTCTTTGCCACCCC	ENSP00000479015.1:p.Lys403ArgfsTer?
NM_000118.3:c.1753_1754insGGGGTGAGGGATGGGGGCACCTACCTCTTTGCCACCCC , LRG_589t1:c.1753_1754insGGGGTGAGGGATGGGGGCACCTACCTCTTTGCCACCCC	NP_000109.1:p.Lys585ArgfsTer?
NM_001114753.2:c.1753_1754insGGGGTGAGGGATGGGGGCACCTACCTCTTTGCCACCCC , LRG_589t2:c.1753_1754insGGGGTGAGGGATGGGGGCACCTACCTCTTTGCCACCCC	NP_001108225.1:p.Lys585ArgfsTer?
NM_001278138.1:c.1207_1208insGGGGTGAGGGATGGGGGCACCTACCTCTTTGCCACCCC	NP_001265067.1:p.Lys403ArgfsTer?
NM_001114753.3:c.1753_1754insGGGGTGAGGGATGGGGGCACCTACCTCTTTGCCACCCC MANE Select	NP_001108225.1:p.Lys585ArgfsTer?
NM_001278138.2:c.1207_1208insGGGGTGAGGGATGGGGGCACCTACCTCTTTGCCACCCC	NP_001265067.1:p.Lys403ArgfsTer?