Canonical Allele Identifier: CA2813227042

Gene: ELANE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.853423_853437del , CM000681.2:g.853423_853437del	GRCh38
NC_000019.9:g.853423_853437del , CM000681.1:g.853423_853437del	GRCh37
NC_000019.8:g.804423_804437del	NCBI36
NG_009627.1:g.6133_6147del , LRG_57:g.6133_6147del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.366+20_366+34del MANE Select	ENSP00000263621.1:n.366+20_366+34del
ENST00000263621.1:c.366+20_366+34del	ENSP00000263621.1:n.366+20_366+34del
ENST00000590230.5:c.366+20_366+34del	ENSP00000466090.1:n.366+20_366+34del
NM_001972.2:c.366+20_366+34del , LRG_57t1:c.366+20_366+34del	NP_001963.1:n.366+20_366+34del
XM_011527775.1:c.366+20_366+34del	XP_011526077.1:n.366+20_366+34del
XM_011527776.1:c.366+20_366+34del	XP_011526078.1:n.366+20_366+34del
NM_001972.3:c.366+20_366+34del	NP_001963.1:n.366+20_366+34del
NM_001972.4:c.366+20_366+34del MANE Select	NP_001963.1:n.366+20_366+34del