Canonical Allele Identifier: CA2838375955

Gene: ELANE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855824dup , CM000681.2:g.855824dup	GRCh38
NC_000019.9:g.855824dup , CM000681.1:g.855824dup	GRCh37
NC_000019.8:g.806824dup	NCBI36
NG_007274.1:g.1160dup , LRG_46:g.1160dup
NG_009627.1:g.8534dup , LRG_57:g.8534dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.597+30dup MANE Select	ENSP00000263621.1:n.597+30dup
ENST00000263621.1:c.597+30dup	ENSP00000263621.1:n.597+30dup
ENST00000590230.5:c.597+30dup	ENSP00000466090.1:n.597+30dup
NM_001972.2:c.597+30dup , LRG_57t1:c.597+30dup	NP_001963.1:n.597+30dup
XM_011527775.1:c.597+30dup	XP_011526077.1:n.597+30dup
XM_011527776.1:c.597+30dup	XP_011526078.1:n.597+30dup
NM_001972.3:c.597+30dup	NP_001963.1:n.597+30dup
NM_001972.4:c.597+30dup MANE Select	NP_001963.1:n.597+30dup