Canonical Allele Identifier: CA860218368

Gene: ENG

Linked Data

• dbSNP Id: rs1276787989
• gnomAD v4: 9-127815168-TCTGGGCTCCCAGG-T
• MyVariant Identifiers: chr9:g.130577448_130577460del (hg19) ; chr9:g.127815169_127815181del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815178_127815190del , CM000671.2:g.127815178_127815190del	GRCh38
NC_000009.11:g.130577457_130577469del , CM000671.1:g.130577457_130577469del	GRCh37
NC_000009.10:g.129617278_129617290del	NCBI36
NG_009551.1:g.44588_44600del , LRG_589:g.44588_44600del
NG_023245.1:g.17304_17316del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.*501_*513del	ENSP00000479015.1:n.*501_*513del
ENST00000373203.9:c.*501_*513del MANE Select	ENSP00000362299.4:n.*501_*513del
ENST00000344849.4:c.*736_*748del	ENSP00000341917.3:n.*736_*748del
ENST00000373203.8:c.*501_*513del	ENSP00000362299.4:n.*501_*513del
ENST00000480266.5:c.*501_*513del	ENSP00000479015.1:n.*501_*513del
NM_000118.3:c.*736_*748del , LRG_589t1:c.*736_*748del	NP_000109.1:n.*736_*748del
NM_001114753.2:c.*501_*513del , LRG_589t2:c.*501_*513del	NP_001108225.1:n.*501_*513del
NM_001278138.1:c.*501_*513del	NP_001265067.1:n.*501_*513del
NM_001114753.3:c.*501_*513del MANE Select	NP_001108225.1:n.*501_*513del
NM_001278138.2:c.*501_*513del	NP_001265067.1:n.*501_*513del