Canonical Allele Identifier: CA2587805311

Gene: ELANE

Linked Data

• gnomAD v4: 19-855583-TCAAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855584_855587del , CM000681.2:g.855584_855587del	GRCh38
NC_000019.9:g.855584_855587del , CM000681.1:g.855584_855587del	GRCh37
NC_000019.8:g.806584_806587del	NCBI36
NG_007274.1:g.920_923del , LRG_46:g.920_923del
NG_009627.1:g.8294_8297del , LRG_57:g.8294_8297del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.387_390del MANE Select	ENSP00000263621.1:p.Ile129MetfsTer?
ENST00000263621.1:c.387_390del	ENSP00000263621.1:p.Ile129MetfsTer?
ENST00000590230.5:c.387_390del	ENSP00000466090.1:p.Ile129MetfsTer?
NM_001972.2:c.387_390del , LRG_57t1:c.387_390del	NP_001963.1:p.Ile129MetfsTer?
XM_011527775.1:c.387_390del	XP_011526077.1:p.Ile129MetfsTer?
XM_011527776.1:c.387_390del	XP_011526078.1:p.Ile129MetfsTer?
NM_001972.3:c.387_390del	NP_001963.1:p.Ile129MetfsTer?
NM_001972.4:c.387_390del MANE Select	NP_001963.1:p.Ile129MetfsTer?