Canonical Allele Identifier: CA2576540468

Gene: ELANE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.853320_853321insTAACCTCT , CM000681.2:g.853320_853321insTAACCTCT	GRCh38
NC_000019.9:g.853320_853321insTAACCTCT , CM000681.1:g.853320_853321insTAACCTCT	GRCh37
NC_000019.8:g.804320_804321insTAACCTCT	NCBI36
NG_009627.1:g.6030_6031insTAACCTCT , LRG_57:g.6030_6031insTAACCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.283_284insTAACCTCT MANE Select	ENSP00000263621.1:p.Thr95IlefsTer21
ENST00000263621.1:c.283_284insTAACCTCT	ENSP00000263621.1:p.Thr95IlefsTer21
ENST00000590230.5:c.283_284insTAACCTCT	ENSP00000466090.1:p.Thr95IlefsTer21
NM_001972.2:c.283_284insTAACCTCT , LRG_57t1:c.283_284insTAACCTCT	NP_001963.1:p.Thr95IlefsTer21
XM_011527775.1:c.283_284insTAACCTCT	XP_011526077.1:p.Thr95IlefsTer21
XM_011527776.1:c.283_284insTAACCTCT	XP_011526078.1:p.Thr95IlefsTer21
NM_001972.3:c.283_284insTAACCTCT	NP_001963.1:p.Thr95IlefsTer21
NM_001972.4:c.283_284insTAACCTCT MANE Select	NP_001963.1:p.Thr95IlefsTer21