Canonical Allele Identifier: CA1129276380

Gene: ENG

Linked Data

• gnomAD v3: 9-127820225-G-GTTTTTTTTT
• gnomAD v4: 9-127820225-G-GTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127820226_127820227insTTTTTTTTT , CM000671.2:g.127820226_127820227insTTTTTTTTT	GRCh38
NC_000009.11:g.130582505_130582506insTTTTTTTTT , CM000671.1:g.130582505_130582506insTTTTTTTTT	GRCh37
NC_000009.10:g.129622326_129622327insTTTTTTTTT	NCBI36
NG_009551.1:g.39543_39544insAAAAAAAAA , LRG_589:g.39543_39544insAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.589-189_589-188insAAAAAAAAA	ENSP00000479015.1:n.589-189_589-188insAAAAAAAAA
ENST00000373203.9:c.1135-189_1135-188insAAAAAAAAA MANE Select	ENSP00000362299.4:n.1135-189_1135-188insAAAAAAAAA
ENST00000344849.4:c.1135-189_1135-188insAAAAAAAAA	ENSP00000341917.3:n.1135-189_1135-188insAAAAAAAAA
ENST00000373203.8:c.1135-189_1135-188insAAAAAAAAA	ENSP00000362299.4:n.1135-189_1135-188insAAAAAAAAA
ENST00000480266.5:c.589-189_589-188insAAAAAAAAA	ENSP00000479015.1:n.589-189_589-188insAAAAAAAAA
ENST00000486329.1:n.103-189_103-188insAAAAAAAAA
NM_000118.3:c.1135-189_1135-188insAAAAAAAAA , LRG_589t1:c.1135-189_1135-188insAAAAAAAAA	NP_000109.1:n.1135-189_1135-188insAAAAAAAAA
NM_001114753.2:c.1135-189_1135-188insAAAAAAAAA , LRG_589t2:c.1135-189_1135-188insAAAAAAAAA	NP_001108225.1:n.1135-189_1135-188insAAAAAAAAA
NM_001278138.1:c.589-189_589-188insAAAAAAAAA	NP_001265067.1:n.589-189_589-188insAAAAAAAAA
NR_136302.1:n.1569-969_1569-968insTTTTTTTTT
NM_001114753.3:c.1135-189_1135-188insAAAAAAAAA MANE Select	NP_001108225.1:n.1135-189_1135-188insAAAAAAAAA
NM_001278138.2:c.589-189_589-188insAAAAAAAAA	NP_001265067.1:n.589-189_589-188insAAAAAAAAA