Canonical Allele Identifier: CA2317359968

Gene: ELANE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.853207_853233delinsGCTGAGCCCCGACCCCCGGGGCCGCCC , CM000681.2:g.853207_853233delinsGCTGAGCCCCGACCCCCGGGGCCGCCC	GRCh38
NC_000019.9:g.853207_853233delinsGCTGAGCCCCGACCCCCGGGGCCGCCC , CM000681.1:g.853207_853233delinsGCTGAGCCCCGACCCCCGGGGCCGCCC	GRCh37
NC_000019.8:g.804207_804233delinsGCTGAGCCCCGACCCCCGGGGCCGCCC	NCBI36
NG_009627.1:g.5917_5943delinsGCTGAGCCCCGACCCCCGGGGCCGCCC , LRG_57:g.5917_5943delinsGCTGAGCCCCGACCCCCGGGGCCGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.225-55_225-29delinsGCTGAGCCCCGACCCCCGGGGCCGCCC MANE Select	ENSP00000263621.1:n.225-55_225-29delinsGCTGAGCCCCGACCCCCGGGGC...
ENST00000263621.1:c.225-55_225-29delinsGCTGAGCCCCGACCCCCGGGGCCGCCC	ENSP00000263621.1:n.225-55_225-29delinsGCTGAGCCCCGACCCCCGGGGC...
ENST00000590230.5:c.225-55_225-29delinsGCTGAGCCCCGACCCCCGGGGCCGCCC	ENSP00000466090.1:n.225-55_225-29delinsGCTGAGCCCCGACCCCCGGGGC...
NM_001972.2:c.225-55_225-29delinsGCTGAGCCCCGACCCCCGGGGCCGCCC , LRG_57t1:c.225-55_225-29delinsGCTGAGCCCCGACCCCCGGGGCCGCCC	NP_001963.1:n.225-55_225-29delinsGCTGAGCCCCGACCCCCGGGGCCGCCC
XM_011527775.1:c.225-55_225-29delinsGCTGAGCCCCGACCCCCGGGGCCGCCC	XP_011526077.1:n.225-55_225-29delinsGCTGAGCCCCGACCCCCGGGGCCGC...
XM_011527776.1:c.225-55_225-29delinsGCTGAGCCCCGACCCCCGGGGCCGCCC	XP_011526078.1:n.225-55_225-29delinsGCTGAGCCCCGACCCCCGGGGCCGC...
NM_001972.3:c.225-55_225-29delinsGCTGAGCCCCGACCCCCGGGGCCGCCC	NP_001963.1:n.225-55_225-29delinsGCTGAGCCCCGACCCCCGGGGCCGCCC
NM_001972.4:c.225-55_225-29delinsGCTGAGCCCCGACCCCCGGGGCCGCCC MANE Select	NP_001963.1:n.225-55_225-29delinsGCTGAGCCCCGACCCCCGGGGCCGCCC