Canonical Allele Identifier: CA2695227789

Gene: ELANE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.853329_853338delinsTTGTTCGCCT , CM000681.2:g.853329_853338delinsTTGTTCGCCT	GRCh38
NC_000019.9:g.853329_853338delinsTTGTTCGCCT , CM000681.1:g.853329_853338delinsTTGTTCGCCT	GRCh37
NC_000019.8:g.804329_804338delinsTTGTTCGCCT	NCBI36
NG_009627.1:g.6039_6048delinsTTGTTCGCCT , LRG_57:g.6039_6048delinsTTGTTCGCCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000263621.2:c.292_301delinsTTGTTCGCCT MANE Select	ENSP00000263621.1:p.Val98_Val101delinsLeu...
ENST00000263621.1:c.292_301delinsTTGTTCGCCT	ENSP00000263621.1:p.Val98_Val101delinsLeu...
ENST00000590230.5:c.292_301delinsTTGTTCGCCT	ENSP00000466090.1:p.Val98_Val101delinsLeu...
NM_001972.2:c.292_301delinsTTGTTCGCCT , LRG_57t1:c.292_301delinsTTGTTCGCCT	NP_001963.1:p.Val98_Val101delinsLeuPheAla...
XM_011527775.1:c.292_301delinsTTGTTCGCCT	XP_011526077.1:p.Val98_Val101delinsLeuPhe...
XM_011527776.1:c.292_301delinsTTGTTCGCCT	XP_011526078.1:p.Val98_Val101delinsLeuPhe...
NM_001972.3:c.292_301delinsTTGTTCGCCT	NP_001963.1:p.Val98_Val101delinsLeuPheAla...
NM_001972.4:c.292_301delinsTTGTTCGCCT MANE Select	NP_001963.1:p.Val98_Val101delinsLeuPheAla...