Canonical Allele Identifier: CA2813227146

Gene: ELANE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.856227_856228insACCAAACACACCCAACA , CM000681.2:g.856227_856228insACCAAACACACCCAACA	GRCh38
NC_000019.9:g.856227_856228insACCAAACACACCCAACA , CM000681.1:g.856227_856228insACCAAACACACCCAACA	GRCh37
NC_000019.8:g.807227_807228insACCAAACACACCCAACA	NCBI36
NG_007274.1:g.1563_1564insACCAAACACACCCAACA , LRG_46:g.1563_1564insACCAAACACACCCAACA
NG_009627.1:g.8937_8938insACCAAACACACCCAACA , LRG_57:g.8937_8938insACCAAACACACCCAACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.*63_*64insACCAAACACACCCAACA MANE Select	ENSP00000263621.1:n.*63_*64insACCAAACACACCCAACA
ENST00000263621.1:c.*63_*64insACCAAACACACCCAACA	ENSP00000263621.1:n.*63_*64insACCAAACACACCCAACA
ENST00000590230.5:c.*63_*64insACCAAACACACCCAACA	ENSP00000466090.1:n.*63_*64insACCAAACACACCCAACA
NM_001972.2:c.*63_*64insACCAAACACACCCAACA , LRG_57t1:c.*63_*64insACCAAACACACCCAACA	NP_001963.1:n.*63_*64insACCAAACACACCCAACA
XM_011527775.1:c.*63_*64insACCAAACACACCCAACA	XP_011526077.1:n.*63_*64insACCAAACACACCCAACA
XM_011527776.1:c.*63_*64insACCAAACACACCCAACA	XP_011526078.1:n.*63_*64insACCAAACACACCCAACA
NM_001972.3:c.*63_*64insACCAAACACACCCAACA	NP_001963.1:n.*63_*64insACCAAACACACCCAACA
NM_001972.4:c.*63_*64insACCAAACACACCCAACA MANE Select	NP_001963.1:n.*63_*64insACCAAACACACCCAACA