Canonical Allele Identifier: CA884315621
Gene: ELANE HGNC NCBI

Linked Data

dbSNP Id: rs1248658849
MyVariant Identifiers: chr19:g.855935del (hg19) chr19:g.855935del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.855938del , CM000681.2:g.855938del GRCh38
NC_000019.9:g.855938del , CM000681.1:g.855938del GRCh37
NC_000019.8:g.806938del NCBI36
NG_007274.1:g.1274del , LRG_46:g.1274del
NG_009627.1:g.8648del , LRG_57:g.8648del

Transcript Alleles

HGVS Amino-acid change
ENST00000263621.2:c.598-20del MANE Select ENSP00000263621.1:n.598-20del
ENST00000263621.1:c.598-20del ENSP00000263621.1:n.598-20del
ENST00000590230.5:c.598-20del ENSP00000466090.1:n.598-20del
NM_001972.2:c.598-20del , LRG_57t1:c.598-20del NP_001963.1:n.598-20del
XM_011527775.1:c.598-20del XP_011526077.1:n.598-20del
XM_011527776.1:c.598-20del XP_011526078.1:n.598-20del
NM_001972.3:c.598-20del NP_001963.1:n.598-20del
NM_001972.4:c.598-20del MANE Select NP_001963.1:n.598-20del
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