Canonical Allele Identifier: CA2587805403
Gene: ELANE HGNC NCBI

Linked Data

gnomAD v4: 19-856018-C-CG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.856022dup , CM000681.2:g.856022dup GRCh38
NC_000019.9:g.856022dup , CM000681.1:g.856022dup GRCh37
NC_000019.8:g.807022dup NCBI36
NG_007274.1:g.1358dup , LRG_46:g.1358dup
NG_009627.1:g.8732dup , LRG_57:g.8732dup

Transcript Alleles

HGVS Amino-acid change
ENST00000263621.2:c.662dup MANE Select ENSP00000263621.1:p.Gly222ArgfsTer?
ENST00000263621.1:c.662dup ENSP00000263621.1:p.Gly222ArgfsTer?
ENST00000590230.5:c.662dup ENSP00000466090.1:p.Gly222ArgfsTer?
NM_001972.2:c.662dup , LRG_57t1:c.662dup NP_001963.1:p.Gly222ArgfsTer?
XM_011527775.1:c.662dup XP_011526077.1:p.Gly222ArgfsTer?
XM_011527776.1:c.662dup XP_011526078.1:p.Gly222ArgfsTer?
NM_001972.3:c.662dup NP_001963.1:p.Gly222ArgfsTer?
NM_001972.4:c.662dup MANE Select NP_001963.1:p.Gly222ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'