Canonical Allele Identifier: CA2317361311
Gene: ELANE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.855523_855524delinsGC , CM000681.2:g.855523_855524delinsGC GRCh38
NC_000019.9:g.855523_855524delinsGC , CM000681.1:g.855523_855524delinsGC GRCh37
NC_000019.8:g.806523_806524delinsGC NCBI36
NG_007274.1:g.859_860delinsGC , LRG_46:g.859_860delinsGC
NG_009627.1:g.8233_8234delinsGC , LRG_57:g.8233_8234delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000263621.2:c.367-41_367-40delinsGC MANE Select ENSP00000263621.1:n.367-41_367-40delinsGC...
ENST00000263621.1:c.367-41_367-40delinsGC ENSP00000263621.1:n.367-41_367-40delinsGC...
ENST00000590230.5:c.367-41_367-40delinsGC ENSP00000466090.1:n.367-41_367-40delinsGC...
NM_001972.2:c.367-41_367-40delinsGC , LRG_57t1:c.367-41_367-40delinsGC NP_001963.1:n.367-41_367-40delinsGC
XM_011527775.1:c.367-41_367-40delinsGC XP_011526077.1:n.367-41_367-40delinsGC
XM_011527776.1:c.367-41_367-40delinsGC XP_011526078.1:n.367-41_367-40delinsGC
NM_001972.3:c.367-41_367-40delinsGC NP_001963.1:n.367-41_367-40delinsGC
NM_001972.4:c.367-41_367-40delinsGC MANE Select NP_001963.1:n.367-41_367-40delinsGC
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