Canonical Allele Identifier: CA860194210

Gene: ENG

Linked Data

• dbSNP Id: rs1235531540
• gnomAD v3: 9-127820104-CCAAGGACTGA-C
• gnomAD v4: 9-127820104-CCAAGGACTGA-C
• MyVariant Identifiers: chr9:g.130582384_130582393del (hg19) ; chr9:g.127820105_127820114del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127820106_127820115del , CM000671.2:g.127820106_127820115del	GRCh38
NC_000009.11:g.130582385_130582394del , CM000671.1:g.130582385_130582394del	GRCh37
NC_000009.10:g.129622206_129622215del	NCBI36
NG_009551.1:g.39655_39664del , LRG_589:g.39655_39664del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.589-77_589-68del	ENSP00000479015.1:n.589-77_589-68del
ENST00000373203.9:c.1135-77_1135-68del MANE Select	ENSP00000362299.4:n.1135-77_1135-68del
ENST00000344849.4:c.1135-77_1135-68del	ENSP00000341917.3:n.1135-77_1135-68del
ENST00000373203.8:c.1135-77_1135-68del	ENSP00000362299.4:n.1135-77_1135-68del
ENST00000480266.5:c.589-77_589-68del	ENSP00000479015.1:n.589-77_589-68del
ENST00000486329.1:n.103-77_103-68del
NM_000118.3:c.1135-77_1135-68del , LRG_589t1:c.1135-77_1135-68del	NP_000109.1:n.1135-77_1135-68del
NM_001114753.2:c.1135-77_1135-68del , LRG_589t2:c.1135-77_1135-68del	NP_001108225.1:n.1135-77_1135-68del
NM_001278138.1:c.589-77_589-68del	NP_001265067.1:n.589-77_589-68del
NR_136302.1:n.1569-1089_1569-1080del
NM_001114753.3:c.1135-77_1135-68del MANE Select	NP_001108225.1:n.1135-77_1135-68del
NM_001278138.2:c.589-77_589-68del	NP_001265067.1:n.589-77_589-68del