Canonical Allele Identifier: CA860211987
Gene: ENG HGNC NCBI

Linked Data

dbSNP Id: rs1306818476
MyVariant Identifiers: chr9:g.130616590_130616591insGCCAGCAGCAGGGCAACA (hg19) chr9:g.127854311_127854312insGCCAGCAGCAGGGCAACA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127854317_127854334dup , CM000671.2:g.127854317_127854334dup GRCh38
NC_000009.11:g.130616596_130616613dup , CM000671.1:g.130616596_130616613dup GRCh37
NC_000009.10:g.129656417_129656434dup NCBI36
NG_009551.1:g.5440_5457dup , LRG_589:g.5440_5457dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000373203.9:c.27_44dup MANE Select ENSP00000362299.4:p.Ala15_Ser16insValAlaLeuLeuLeuAla
ENST00000344849.4:c.27_44dup ENSP00000341917.3:p.Ala15_Ser16insValAlaLeuLeuLeuAla
ENST00000373203.8:c.27_44dup ENSP00000362299.4:p.Ala15_Ser16insValAlaLeuLeuLeuAla
NM_000118.3:c.27_44dup , LRG_589t1:c.27_44dup NP_000109.1:p.Ala15_Ser16insValAlaLeuLeuLeuAla
NM_001114753.2:c.27_44dup , LRG_589t2:c.27_44dup NP_001108225.1:p.Ala15_Ser16insValAlaLeuLeuLeuAla
NM_001114753.3:c.27_44dup MANE Select NP_001108225.1:p.Ala15_Ser16insValAlaLeuLeuLeuAla
Search 100 bp 5'
Search 100 bp 3'