Canonical Allele Identifier: CA860194244

Gene: ENG

Linked Data

• dbSNP Id: rs1032924576
• MyVariant Identifiers: chr9:g.130582488_130582491del (hg19) ; chr9:g.127820209_127820212del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127820213_127820216del , CM000671.2:g.127820213_127820216del	GRCh38
NC_000009.11:g.130582492_130582495del , CM000671.1:g.130582492_130582495del	GRCh37
NC_000009.10:g.129622313_129622316del	NCBI36
NG_009551.1:g.39557_39560del , LRG_589:g.39557_39560del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.589-175_589-172del	ENSP00000479015.1:n.589-175_589-172del
ENST00000373203.9:c.1135-175_1135-172del MANE Select	ENSP00000362299.4:n.1135-175_1135-172del
ENST00000344849.4:c.1135-175_1135-172del	ENSP00000341917.3:n.1135-175_1135-172del
ENST00000373203.8:c.1135-175_1135-172del	ENSP00000362299.4:n.1135-175_1135-172del
ENST00000480266.5:c.589-175_589-172del	ENSP00000479015.1:n.589-175_589-172del
ENST00000486329.1:n.103-175_103-172del
NM_000118.3:c.1135-175_1135-172del , LRG_589t1:c.1135-175_1135-172del	NP_000109.1:n.1135-175_1135-172del
NM_001114753.2:c.1135-175_1135-172del , LRG_589t2:c.1135-175_1135-172del	NP_001108225.1:n.1135-175_1135-172del
NM_001278138.1:c.589-175_589-172del	NP_001265067.1:n.589-175_589-172del
NR_136302.1:n.1569-982_1569-979del
NM_001114753.3:c.1135-175_1135-172del MANE Select	NP_001108225.1:n.1135-175_1135-172del
NM_001278138.2:c.589-175_589-172del	NP_001265067.1:n.589-175_589-172del