Canonical Allele Identifier: CA200305835

Gene: ENG

Linked Data

• dbSNP Id: rs902943572
• gnomAD v3: 9-127820181-GTCA-G
• gnomAD v4: 9-127820181-GTCA-G
• MyVariant Identifiers: chr9:g.130582461_130582463del (hg19) ; chr9:g.127820182_127820184del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127820187_127820189del , CM000671.2:g.127820187_127820189del	GRCh38
NC_000009.11:g.130582466_130582468del , CM000671.1:g.130582466_130582468del	GRCh37
NC_000009.10:g.129622287_129622289del	NCBI36
NG_009551.1:g.39585_39587del , LRG_589:g.39585_39587del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.589-147_589-145del	ENSP00000479015.1:n.589-147_589-145del
ENST00000373203.9:c.1135-147_1135-145del MANE Select	ENSP00000362299.4:n.1135-147_1135-145del
ENST00000344849.4:c.1135-147_1135-145del	ENSP00000341917.3:n.1135-147_1135-145del
ENST00000373203.8:c.1135-147_1135-145del	ENSP00000362299.4:n.1135-147_1135-145del
ENST00000480266.5:c.589-147_589-145del	ENSP00000479015.1:n.589-147_589-145del
ENST00000486329.1:n.103-147_103-145del
NM_000118.3:c.1135-147_1135-145del , LRG_589t1:c.1135-147_1135-145del	NP_000109.1:n.1135-147_1135-145del
NM_001114753.2:c.1135-147_1135-145del , LRG_589t2:c.1135-147_1135-145del	NP_001108225.1:n.1135-147_1135-145del
NM_001278138.1:c.589-147_589-145del	NP_001265067.1:n.589-147_589-145del
NR_136302.1:n.1569-1008_1569-1006del
NM_001114753.3:c.1135-147_1135-145del MANE Select	NP_001108225.1:n.1135-147_1135-145del
NM_001278138.2:c.589-147_589-145del	NP_001265067.1:n.589-147_589-145del