Canonical Allele Identifier: CA1879975071

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825404_127825417delinsGCGGGGAGCGAGGC , CM000671.2:g.127825404_127825417delinsGCGGGGAGCGAGGC	GRCh38
NC_000009.11:g.130587683_130587696delinsGCGGGGAGCGAGGC , CM000671.1:g.130587683_130587696delinsGCGGGGAGCGAGGC	GRCh37
NC_000009.10:g.129627504_129627517delinsGCGGGGAGCGAGGC	NCBI36
NG_009551.1:g.34352_34365delinsGCCTCGCTCCCCGC , LRG_589:g.34352_34365delinsGCCTCGCTCCCCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.144-60_144-47delinsGCCTCGCTCCCCGC	ENSP00000479015.1:n.144-60_144-47delinsGCCTCGCTCCCCGC
ENST00000373203.9:c.690-60_690-47delinsGCCTCGCTCCCCGC MANE Select	ENSP00000362299.4:n.690-60_690-47delinsGCCTCGCTCCCCGC
ENST00000344849.4:c.690-60_690-47delinsGCCTCGCTCCCCGC	ENSP00000341917.3:n.690-60_690-47delinsGCCTCGCTCCCCGC
ENST00000373203.8:c.690-60_690-47delinsGCCTCGCTCCCCGC	ENSP00000362299.4:n.690-60_690-47delinsGCCTCGCTCCCCGC
ENST00000480266.5:c.144-60_144-47delinsGCCTCGCTCCCCGC	ENSP00000479015.1:n.144-60_144-47delinsGCCTCGCTCCCCGC
NM_000118.3:c.690-60_690-47delinsGCCTCGCTCCCCGC , LRG_589t1:c.690-60_690-47delinsGCCTCGCTCCCCGC	NP_000109.1:n.690-60_690-47delinsGCCTCGCTCCCCGC
NM_001114753.2:c.690-60_690-47delinsGCCTCGCTCCCCGC , LRG_589t2:c.690-60_690-47delinsGCCTCGCTCCCCGC	NP_001108225.1:n.690-60_690-47delinsGCCTCGCTCCCCGC
NM_001278138.1:c.144-60_144-47delinsGCCTCGCTCCCCGC	NP_001265067.1:n.144-60_144-47delinsGCCTCGCTCCCCGC
XR_001746952.2:n.28_41delinsGCGGGGAGCGAGGC
NM_001114753.3:c.690-60_690-47delinsGCCTCGCTCCCCGC MANE Select	NP_001108225.1:n.690-60_690-47delinsGCCTCGCTCCCCGC
NM_001278138.2:c.144-60_144-47delinsGCCTCGCTCCCCGC	NP_001265067.1:n.144-60_144-47delinsGCCTCGCTCCCCGC