Canonical Allele Identifier: CA2695227812

Gene: ELANE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855961_855968dup , CM000681.2:g.855961_855968dup	GRCh38
NC_000019.9:g.855961_855968dup , CM000681.1:g.855961_855968dup	GRCh37
NC_000019.8:g.806961_806968dup	NCBI36
NG_007274.1:g.1297_1304dup , LRG_46:g.1297_1304dup
NG_009627.1:g.8671_8678dup , LRG_57:g.8671_8678dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000263621.2:c.601_608dup MANE Select	ENSP00000263621.1:p.Ser204ThrfsTer11
ENST00000263621.1:c.601_608dup	ENSP00000263621.1:p.Ser204ThrfsTer11
ENST00000590230.5:c.601_608dup	ENSP00000466090.1:p.Ser204ThrfsTer11
NM_001972.2:c.601_608dup , LRG_57t1:c.601_608dup	NP_001963.1:p.Ser204ThrfsTer11
XM_011527775.1:c.601_608dup	XP_011526077.1:p.Ser204ThrfsTer11
XM_011527776.1:c.601_608dup	XP_011526078.1:p.Ser204ThrfsTer11
NM_001972.3:c.601_608dup	NP_001963.1:p.Ser204ThrfsTer11
NM_001972.4:c.601_608dup MANE Select	NP_001963.1:p.Ser204ThrfsTer11