Canonical Allele Identifier: CA2579461220

Gene: ENG

Linked Data

• gnomAD v4: 9-127815808-T-TGGGAGCGGGAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815812_127815823dup , CM000671.2:g.127815812_127815823dup	GRCh38
NC_000009.11:g.130578091_130578102dup , CM000671.1:g.130578091_130578102dup	GRCh37
NC_000009.10:g.129617912_129617923dup	NCBI36
NG_009551.1:g.43949_43960dup , LRG_589:g.43949_43960dup
NG_023245.1:g.17938_17949dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1307-14_1307-3dup	ENSP00000479015.1:n.1307-14_1307-3dup
ENST00000373203.9:c.1853-14_1853-3dup MANE Select	ENSP00000362299.4:n.1853-14_1853-3dup
ENST00000344849.4:c.*97_*108dup	ENSP00000341917.3:n.*97_*108dup
ENST00000373203.8:c.1853-14_1853-3dup	ENSP00000362299.4:n.1853-14_1853-3dup
ENST00000480266.5:c.1307-14_1307-3dup	ENSP00000479015.1:n.1307-14_1307-3dup
NM_000118.3:c.*97_*108dup , LRG_589t1:c.*97_*108dup	NP_000109.1:n.*97_*108dup
NM_001114753.2:c.1853-14_1853-3dup , LRG_589t2:c.1853-14_1853-3dup	NP_001108225.1:n.1853-14_1853-3dup
NM_001278138.1:c.1307-14_1307-3dup	NP_001265067.1:n.1307-14_1307-3dup
NM_001114753.3:c.1853-14_1853-3dup MANE Select	NP_001108225.1:n.1853-14_1853-3dup
NM_001278138.2:c.1307-14_1307-3dup	NP_001265067.1:n.1307-14_1307-3dup