Canonical Allele Identifier: CA2695227808
Gene: ELANE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.855797_855800del , CM000681.2:g.855797_855800del GRCh38
NC_000019.9:g.855797_855800del , CM000681.1:g.855797_855800del GRCh37
NC_000019.8:g.806797_806800del NCBI36
NG_007274.1:g.1133_1136del , LRG_46:g.1133_1136del
NG_009627.1:g.8507_8510del , LRG_57:g.8507_8510del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.597+3_597+6del
ENST00000263621.1:c.597+3_597+6del
ENST00000590230.5:c.597+3_597+6del
NM_001972.2:c.597+3_597+6del , LRG_57t1:c.597+3_597+6del
XM_011527775.1:c.597+3_597+6del
XM_011527776.1:c.597+3_597+6del
NM_001972.3:c.597+3_597+6del
NM_001972.4:c.597+3_597+6del