Canonical Allele Identifier: CA2740091833
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 2921938
ClinVar RCV Id: RCV003782960
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.855763dup , CM000681.2:g.855763dup GRCh38
NC_000019.9:g.855763dup , CM000681.1:g.855763dup GRCh37
NC_000019.8:g.806763dup NCBI36
NG_007274.1:g.1099dup , LRG_46:g.1099dup
NG_009627.1:g.8473dup , LRG_57:g.8473dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.566dup MANE Select ENSP00000263621.1:p.Val190ArgfsTer?
ENST00000263621.1:c.566dup ENSP00000263621.1:p.Val190ArgfsTer?
ENST00000590230.5:c.566dup ENSP00000466090.1:p.Val190ArgfsTer?
NM_001972.2:c.566dup , LRG_57t1:c.566dup NP_001963.1:p.Val190ArgfsTer?
XM_011527775.1:c.566dup XP_011526077.1:p.Val190ArgfsTer?
XM_011527776.1:c.566dup XP_011526078.1:p.Val190ArgfsTer?
NM_001972.3:c.566dup NP_001963.1:p.Val190ArgfsTer?
NM_001972.4:c.566dup MANE Select NP_001963.1:p.Val190ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'