Canonical Allele Identifier: CA1139666167

Gene: ELANE

Linked Data

• ClinVar Variation Id: 936712
• ClinVar RCV Id: RCV001796386
• dbSNP Id: rs2035670462

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855799_855802del , CM000681.2:g.855799_855802del	GRCh38
NC_000019.9:g.855799_855802del , CM000681.1:g.855799_855802del	GRCh37
NC_000019.8:g.806799_806802del	NCBI36
NG_007274.1:g.1135_1138del , LRG_46:g.1135_1138del
NG_009627.1:g.8509_8512del , LRG_57:g.8509_8512del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.597+5_597+8del MANE Select	ENSP00000263621.1:n.597+5_597+8del
ENST00000263621.1:c.597+5_597+8del	ENSP00000263621.1:n.597+5_597+8del
ENST00000590230.5:c.597+5_597+8del	ENSP00000466090.1:n.597+5_597+8del
NM_001972.2:c.597+5_597+8del , LRG_57t1:c.597+5_597+8del	NP_001963.1:n.597+5_597+8del
XM_011527775.1:c.597+5_597+8del	XP_011526077.1:n.597+5_597+8del
XM_011527776.1:c.597+5_597+8del	XP_011526078.1:n.597+5_597+8del
NM_001972.3:c.597+5_597+8del	NP_001963.1:n.597+5_597+8del
NM_001972.4:c.597+5_597+8del MANE Select	NP_001963.1:n.597+5_597+8del