Canonical Allele Identifier: CA2587805547

Gene: ELANE

Linked Data

• gnomAD v4: 19-856234-C-CAAAACAGAGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.856234_856235insAAAACAGAGAA , CM000681.2:g.856234_856235insAAAACAGAGAA	GRCh38
NC_000019.9:g.856234_856235insAAAACAGAGAA , CM000681.1:g.856234_856235insAAAACAGAGAA	GRCh37
NC_000019.8:g.807234_807235insAAAACAGAGAA	NCBI36
NG_007274.1:g.1570_1571insAAAACAGAGAA , LRG_46:g.1570_1571insAAAACAGAGAA
NG_009627.1:g.8944_8945insAAAACAGAGAA , LRG_57:g.8944_8945insAAAACAGAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.*70_*71insAAAACAGAGAA MANE Select	ENSP00000263621.1:n.*70_*71insAAAACAGAGAA
ENST00000263621.1:c.*70_*71insAAAACAGAGAA	ENSP00000263621.1:n.*70_*71insAAAACAGAGAA
ENST00000590230.5:c.*70_*71insAAAACAGAGAA	ENSP00000466090.1:n.*70_*71insAAAACAGAGAA
NM_001972.2:c.*70_*71insAAAACAGAGAA , LRG_57t1:c.*70_*71insAAAACAGAGAA	NP_001963.1:n.*70_*71insAAAACAGAGAA
XM_011527775.1:c.*70_*71insAAAACAGAGAA	XP_011526077.1:n.*70_*71insAAAACAGAGAA
XM_011527776.1:c.*70_*71insAAAACAGAGAA	XP_011526078.1:n.*70_*71insAAAACAGAGAA
NM_001972.3:c.*70_*71insAAAACAGAGAA	NP_001963.1:n.*70_*71insAAAACAGAGAA
NM_001972.4:c.*70_*71insAAAACAGAGAA MANE Select	NP_001963.1:n.*70_*71insAAAACAGAGAA