Canonical Allele Identifier: CA2691809076

Gene: ENG

Linked Data

• gnomAD v4: 9-127825302-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825303dup , CM000671.2:g.127825303dup	GRCh38
NC_000009.11:g.130587582dup , CM000671.1:g.130587582dup	GRCh37
NC_000009.10:g.129627403dup	NCBI36
NG_009551.1:g.34466dup , LRG_589:g.34466dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.198dup	ENSP00000479015.1:p.Ala67CysfsTer?
ENST00000373203.9:c.744dup MANE Select	ENSP00000362299.4:p.Ala249CysfsTer?
ENST00000344849.4:c.744dup	ENSP00000341917.3:p.Ala249CysfsTer?
ENST00000373203.8:c.744dup	ENSP00000362299.4:p.Ala249CysfsTer?
ENST00000480266.5:c.198dup	ENSP00000479015.1:p.Ala67CysfsTer?
NM_000118.3:c.744dup , LRG_589t1:c.744dup	NP_000109.1:p.Ala249CysfsTer?
NM_001114753.2:c.744dup , LRG_589t2:c.744dup	NP_001108225.1:p.Ala249CysfsTer?
NM_001278138.1:c.198dup	NP_001265067.1:p.Ala67CysfsTer?
NM_001114753.3:c.744dup MANE Select	NP_001108225.1:p.Ala249CysfsTer?
NM_001278138.2:c.198dup	NP_001265067.1:p.Ala67CysfsTer?