Canonical Allele Identifier: CA2317361581
Gene: ELANE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.855932_855933delinsCT , CM000681.2:g.855932_855933delinsCT GRCh38
NC_000019.9:g.855932_855933delinsCT , CM000681.1:g.855932_855933delinsCT GRCh37
NC_000019.8:g.806932_806933delinsCT NCBI36
NG_007274.1:g.1268_1269delinsCT , LRG_46:g.1268_1269delinsCT
NG_009627.1:g.8642_8643delinsCT , LRG_57:g.8642_8643delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.598-26_598-25delinsCT MANE Select ENSP00000263621.1:n.598-26_598-25delinsCT
ENST00000263621.1:c.598-26_598-25delinsCT ENSP00000263621.1:n.598-26_598-25delinsCT
ENST00000590230.5:c.598-26_598-25delinsCT ENSP00000466090.1:n.598-26_598-25delinsCT
NM_001972.2:c.598-26_598-25delinsCT , LRG_57t1:c.598-26_598-25delinsCT NP_001963.1:n.598-26_598-25delinsCT
XM_011527775.1:c.598-26_598-25delinsCT XP_011526077.1:n.598-26_598-25delinsCT
XM_011527776.1:c.598-26_598-25delinsCT XP_011526078.1:n.598-26_598-25delinsCT
NM_001972.3:c.598-26_598-25delinsCT NP_001963.1:n.598-26_598-25delinsCT
NM_001972.4:c.598-26_598-25delinsCT MANE Select NP_001963.1:n.598-26_598-25delinsCT
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