Canonical Allele Identifier: CA2691805861

Gene: ENG

Linked Data

• gnomAD v4: 9-127816040-T-TGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127816040_127816041insGGA , CM000671.2:g.127816040_127816041insGGA	GRCh38
NC_000009.11:g.130578319_130578320insGGA , CM000671.1:g.130578319_130578320insGGA	GRCh37
NC_000009.10:g.129618140_129618141insGGA	NCBI36
NG_009551.1:g.43728_43729insTCC , LRG_589:g.43728_43729insTCC
NG_023245.1:g.18166_18167insGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1208_1209insTCC	ENSP00000479015.1:p.Lys403delinsAsnPro
ENST00000373203.9:c.1754_1755insTCC MANE Select	ENSP00000362299.4:p.Lys585delinsAsnPro
ENST00000344849.4:c.1754_1755insTCC	ENSP00000341917.3:p.Lys585delinsAsnPro
ENST00000373203.8:c.1754_1755insTCC	ENSP00000362299.4:p.Lys585delinsAsnPro
ENST00000480266.5:c.1208_1209insTCC	ENSP00000479015.1:p.Lys403delinsAsnPro
NM_000118.3:c.1754_1755insTCC , LRG_589t1:c.1754_1755insTCC	NP_000109.1:p.Lys585delinsAsnPro
NM_001114753.2:c.1754_1755insTCC , LRG_589t2:c.1754_1755insTCC	NP_001108225.1:p.Lys585delinsAsnPro
NM_001278138.1:c.1208_1209insTCC	NP_001265067.1:p.Lys403delinsAsnPro
NM_001114753.3:c.1754_1755insTCC MANE Select	NP_001108225.1:p.Lys585delinsAsnPro
NM_001278138.2:c.1208_1209insTCC	NP_001265067.1:p.Lys403delinsAsnPro