Canonical Allele Identifier: CA2740091830
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 2950424
ClinVar RCV Id: RCV003809734
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.852931_852932insA , CM000681.2:g.852931_852932insA GRCh38
NC_000019.9:g.852931_852932insA , CM000681.1:g.852931_852932insA GRCh37
NC_000019.8:g.803931_803932insA NCBI36
NG_009627.1:g.5641_5642insA , LRG_57:g.5641_5642insA

Transcript Alleles

HGVS Amino-acid change
ENST00000263621.2:c.123_124insA MANE Select ENSP00000263621.1:p.Pro42ThrfsTer?
ENST00000263621.1:c.123_124insA ENSP00000263621.1:p.Pro42ThrfsTer?
ENST00000590230.5:c.123_124insA ENSP00000466090.1:p.Pro42ThrfsTer?
NM_001972.2:c.123_124insA , LRG_57t1:c.123_124insA NP_001963.1:p.Pro42ThrfsTer?
XM_011527775.1:c.123_124insA XP_011526077.1:p.Pro42ThrfsTer?
XM_011527776.1:c.123_124insA XP_011526078.1:p.Pro42ThrfsTer?
NM_001972.3:c.123_124insA NP_001963.1:p.Pro42ThrfsTer?
NM_001972.4:c.123_124insA MANE Select NP_001963.1:p.Pro42ThrfsTer?
Search 100 bp 5'
Search 100 bp 3'