Canonical Allele Identifier: CA1879981372

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127829457_127829461delinsCCTGA , CM000671.2:g.127829457_127829461delinsCCTGA	GRCh38
NC_000009.11:g.130591736_130591740delinsCCTGA , CM000671.1:g.130591736_130591740delinsCCTGA	GRCh37
NC_000009.10:g.129631557_129631561delinsCCTGA	NCBI36
NG_009551.1:g.30308_30312delinsTCAGG , LRG_589:g.30308_30312delinsTCAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.-187+226_-187+230delinsTCAGG	ENSP00000479015.1:n.-187+226_-187+230delinsTCAGG
ENST00000373203.9:c.360+226_360+230delinsTCAGG MANE Select	ENSP00000362299.4:n.360+226_360+230delinsTCAGG
ENST00000344849.4:c.360+226_360+230delinsTCAGG	ENSP00000341917.3:n.360+226_360+230delinsTCAGG
ENST00000373203.8:c.360+226_360+230delinsTCAGG	ENSP00000362299.4:n.360+226_360+230delinsTCAGG
ENST00000462196.1:n.118+226_118+230delinsTCAGG
ENST00000480266.5:c.-187+226_-187+230delinsTCAGG	ENSP00000479015.1:n.-187+226_-187+230delinsTCAGG
NM_000118.3:c.360+226_360+230delinsTCAGG , LRG_589t1:c.360+226_360+230delinsTCAGG	NP_000109.1:n.360+226_360+230delinsTCAGG
NM_001114753.2:c.360+226_360+230delinsTCAGG , LRG_589t2:c.360+226_360+230delinsTCAGG	NP_001108225.1:n.360+226_360+230delinsTCAGG
NM_001278138.1:c.-187+226_-187+230delinsTCAGG	NP_001265067.1:n.-187+226_-187+230delinsTCAGG
XR_001746952.2:n.83-2941_83-2937delinsCCTGA
NM_001114753.3:c.360+226_360+230delinsTCAGG MANE Select	NP_001108225.1:n.360+226_360+230delinsTCAGG
NM_001278138.2:c.-187+226_-187+230delinsTCAGG	NP_001265067.1:n.-187+226_-187+230delinsTCAGG