Canonical Allele Identifier: CA645613905

Gene: ELANE

Linked Data

• COSMIC: COSM5391202

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.856060_856061delinsTT , CM000681.2:g.856060_856061delinsTT	GRCh38
NC_000019.9:g.856060_856061delinsTT , CM000681.1:g.856060_856061delinsTT	GRCh37
NC_000019.8:g.807060_807061delinsTT	NCBI36
NG_007274.1:g.1396_1397delinsTT , LRG_46:g.1396_1397delinsTT
NG_009627.1:g.8770_8771delinsTT , LRG_57:g.8770_8771delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.700_701delinsTT MANE Select	ENSP00000263621.1:p.Pro234Leu
ENST00000263621.1:c.700_701delinsTT	ENSP00000263621.1:p.Pro234Leu
ENST00000590230.5:c.700_701delinsTT	ENSP00000466090.1:p.Pro234Leu
NM_001972.2:c.700_701delinsTT , LRG_57t1:c.700_701delinsTT	NP_001963.1:p.Pro234Leu
XM_011527775.1:c.700_701delinsTT	XP_011526077.1:p.Pro234Leu
XM_011527776.1:c.700_701delinsTT	XP_011526078.1:p.Pro234Leu
NM_001972.3:c.700_701delinsTT	NP_001963.1:p.Pro234Leu
NM_001972.4:c.700_701delinsTT MANE Select	NP_001963.1:p.Pro234Leu