Canonical Allele Identifier: CA1879982102

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127829838_127829840delinsCAG , CM000671.2:g.127829838_127829840delinsCAG	GRCh38
NC_000009.11:g.130592117_130592119delinsCAG , CM000671.1:g.130592117_130592119delinsCAG	GRCh37
NC_000009.10:g.129631938_129631940delinsCAG	NCBI36
NG_009551.1:g.29929_29931delinsCTG , LRG_589:g.29929_29931delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.-327-13_-327-11delinsCTG	ENSP00000479015.1:n.-327-13_-327-11delinsCTG
ENST00000373203.9:c.220-13_220-11delinsCTG MANE Select	ENSP00000362299.4:n.220-13_220-11delinsCTG
ENST00000344849.4:c.220-13_220-11delinsCTG	ENSP00000341917.3:n.220-13_220-11delinsCTG
ENST00000373203.8:c.220-13_220-11delinsCTG	ENSP00000362299.4:n.220-13_220-11delinsCTG
ENST00000480266.5:c.-327-13_-327-11delinsCTG	ENSP00000479015.1:n.-327-13_-327-11delinsCTG
NM_000118.3:c.220-13_220-11delinsCTG , LRG_589t1:c.220-13_220-11delinsCTG	NP_000109.1:n.220-13_220-11delinsCTG
NM_001114753.2:c.220-13_220-11delinsCTG , LRG_589t2:c.220-13_220-11delinsCTG	NP_001108225.1:n.220-13_220-11delinsCTG
NM_001278138.1:c.-327-13_-327-11delinsCTG	NP_001265067.1:n.-327-13_-327-11delinsCTG
XR_001746952.2:n.83-2560_83-2558delinsCAG
NM_001114753.3:c.220-13_220-11delinsCTG MANE Select	NP_001108225.1:n.220-13_220-11delinsCTG
NM_001278138.2:c.-327-13_-327-11delinsCTG	NP_001265067.1:n.-327-13_-327-11delinsCTG