Canonical Allele Identifier: CA2813227124

Gene: ELANE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855589_855590insACCCAACA , CM000681.2:g.855589_855590insACCCAACA	GRCh38
NC_000019.9:g.855589_855590insACCCAACA , CM000681.1:g.855589_855590insACCCAACA	GRCh37
NC_000019.8:g.806589_806590insACCCAACA	NCBI36
NG_007274.1:g.925_926insACCCAACA , LRG_46:g.925_926insACCCAACA
NG_009627.1:g.8299_8300insACCCAACA , LRG_57:g.8299_8300insACCCAACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.392_393insACCCAACA MANE Select	ENSP00000263621.1:p.Asn132ProfsTer?
ENST00000263621.1:c.392_393insACCCAACA	ENSP00000263621.1:p.Asn132ProfsTer?
ENST00000590230.5:c.392_393insACCCAACA	ENSP00000466090.1:p.Asn132ProfsTer?
NM_001972.2:c.392_393insACCCAACA , LRG_57t1:c.392_393insACCCAACA	NP_001963.1:p.Asn132ProfsTer?
XM_011527775.1:c.392_393insACCCAACA	XP_011526077.1:p.Asn132ProfsTer?
XM_011527776.1:c.392_393insACCCAACA	XP_011526078.1:p.Asn132ProfsTer?
NM_001972.3:c.392_393insACCCAACA	NP_001963.1:p.Asn132ProfsTer?
NM_001972.4:c.392_393insACCCAACA MANE Select	NP_001963.1:p.Asn132ProfsTer?