Canonical Allele Identifier: CA1879982108

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127829839_127829842delinsAGAG , CM000671.2:g.127829839_127829842delinsAGAG	GRCh38
NC_000009.11:g.130592118_130592121delinsAGAG , CM000671.1:g.130592118_130592121delinsAGAG	GRCh37
NC_000009.10:g.129631939_129631942delinsAGAG	NCBI36
NG_009551.1:g.29927_29930delinsCTCT , LRG_589:g.29927_29930delinsCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.-327-15_-327-12delinsCTCT	ENSP00000479015.1:n.-327-15_-327-12delinsCTCT
ENST00000373203.9:c.220-15_220-12delinsCTCT MANE Select	ENSP00000362299.4:n.220-15_220-12delinsCTCT
ENST00000344849.4:c.220-15_220-12delinsCTCT	ENSP00000341917.3:n.220-15_220-12delinsCTCT
ENST00000373203.8:c.220-15_220-12delinsCTCT	ENSP00000362299.4:n.220-15_220-12delinsCTCT
ENST00000480266.5:c.-327-15_-327-12delinsCTCT	ENSP00000479015.1:n.-327-15_-327-12delinsCTCT
NM_000118.3:c.220-15_220-12delinsCTCT , LRG_589t1:c.220-15_220-12delinsCTCT	NP_000109.1:n.220-15_220-12delinsCTCT
NM_001114753.2:c.220-15_220-12delinsCTCT , LRG_589t2:c.220-15_220-12delinsCTCT	NP_001108225.1:n.220-15_220-12delinsCTCT
NM_001278138.1:c.-327-15_-327-12delinsCTCT	NP_001265067.1:n.-327-15_-327-12delinsCTCT
XR_001746952.2:n.83-2559_83-2556delinsAGAG
NM_001114753.3:c.220-15_220-12delinsCTCT MANE Select	NP_001108225.1:n.220-15_220-12delinsCTCT
NM_001278138.2:c.-327-15_-327-12delinsCTCT	NP_001265067.1:n.-327-15_-327-12delinsCTCT