Canonical Allele Identifier: CA5252653

Gene: ENG

Linked Data

• dbSNP Id: rs778194854
• ExAC: 9:130578373 T / TGC
• gnomAD v2: 9-130578373-T-TGC
• MyVariant Identifiers: chr9:g.130578373_130578374insGC (hg19) ; chr9:g.127816094_127816095insGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127816095_127816096dup , CM000671.2:g.127816095_127816096dup	GRCh38
NC_000009.11:g.130578374_130578375dup , CM000671.1:g.130578374_130578375dup	GRCh37
NC_000009.10:g.129618195_129618196dup	NCBI36
NG_009551.1:g.43673_43674dup , LRG_589:g.43673_43674dup
NG_023245.1:g.18221_18222dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1196-43_1196-42dup	ENSP00000479015.1:n.1196-43_1196-42dup
ENST00000373203.9:c.1742-43_1742-42dup MANE Select	ENSP00000362299.4:n.1742-43_1742-42dup
ENST00000344849.4:c.1742-43_1742-42dup	ENSP00000341917.3:n.1742-43_1742-42dup
ENST00000373203.8:c.1742-43_1742-42dup	ENSP00000362299.4:n.1742-43_1742-42dup
ENST00000480266.5:c.1196-43_1196-42dup	ENSP00000479015.1:n.1196-43_1196-42dup
NM_000118.3:c.1742-43_1742-42dup , LRG_589t1:c.1742-43_1742-42dup	NP_000109.1:n.1742-43_1742-42dup
NM_001114753.2:c.1742-43_1742-42dup , LRG_589t2:c.1742-43_1742-42dup	NP_001108225.1:n.1742-43_1742-42dup
NM_001278138.1:c.1196-43_1196-42dup	NP_001265067.1:n.1196-43_1196-42dup
XM_011519273.1:c.-484_-483dup	XP_011517575.1:n.-484_-483dup
NR_136302.1:n.30_31dup
NM_001114753.3:c.1742-43_1742-42dup MANE Select	NP_001108225.1:n.1742-43_1742-42dup
NM_001278138.2:c.1196-43_1196-42dup	NP_001265067.1:n.1196-43_1196-42dup