Canonical Allele Identifier: CA631295190

Gene: ELANE

Linked Data

• dbSNP Id: rs1422534907
• gnomAD v2: 19-855662-CTGGGGCCTTCTGGGCAGGAACCG-C
• gnomAD v4: 19-855662-CTGGGGCCTTCTGGGCAGGAACCG-C
• MyVariant Identifiers: chr19:g.855663_855685del (hg19) ; chr19:g.855663_855685del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855667_855689del , CM000681.2:g.855667_855689del	GRCh38
NC_000019.9:g.855667_855689del , CM000681.1:g.855667_855689del	GRCh37
NC_000019.8:g.806667_806689del	NCBI36
NG_007274.1:g.1003_1025del , LRG_46:g.1003_1025del
NG_009627.1:g.8377_8399del , LRG_57:g.8377_8399del

Transcript Alleles

HGVS	Amino-acid change
ENST00000263621.2:c.470_492del MANE Select	ENSP00000263621.1:p.Gly157AspfsTer?
ENST00000263621.1:c.470_492del	ENSP00000263621.1:p.Gly157AspfsTer?
ENST00000590230.5:c.470_492del	ENSP00000466090.1:p.Gly157AspfsTer?
NM_001972.2:c.470_492del , LRG_57t1:c.470_492del	NP_001963.1:p.Gly157AspfsTer?
XM_011527775.1:c.470_492del	XP_011526077.1:p.Gly157AspfsTer?
XM_011527776.1:c.470_492del	XP_011526078.1:p.Gly157AspfsTer?
NM_001972.3:c.470_492del	NP_001963.1:p.Gly157AspfsTer?
NM_001972.4:c.470_492del MANE Select	NP_001963.1:p.Gly157AspfsTer?