Canonical Allele Identifier: CA884315985

Gene: ELANE

Linked Data

• dbSNP Id: rs1162925812
• gnomAD v3: 19-856114-AACCCCTGTCCCC-A
• gnomAD v4: 19-856114-AACCCCTGTCCCC-A
• MyVariant Identifiers: chr19:g.856115_856126del (hg19) ; chr19:g.856115_856126del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.856120_856131del , CM000681.2:g.856120_856131del	GRCh38
NC_000019.9:g.856120_856131del , CM000681.1:g.856120_856131del	GRCh37
NC_000019.8:g.807120_807131del	NCBI36
NG_007274.1:g.1456_1467del , LRG_46:g.1456_1467del
NG_009627.1:g.8830_8841del , LRG_57:g.8830_8841del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.760_771del MANE Select	ENSP00000263621.1:p.Cys254_Pro257del
ENST00000263621.1:c.760_771del	ENSP00000263621.1:p.Cys254_Pro257del
ENST00000590230.5:c.760_771del	ENSP00000466090.1:p.Cys254_Pro257del
NM_001972.2:c.760_771del , LRG_57t1:c.760_771del	NP_001963.1:p.Cys254_Pro257del
XM_011527775.1:c.760_771del	XP_011526077.1:p.Cys254_Pro257del
XM_011527776.1:c.760_771del	XP_011526078.1:p.Cys254_Pro257del
NM_001972.3:c.760_771del	NP_001963.1:p.Cys254_Pro257del
NM_001972.4:c.760_771del MANE Select	NP_001963.1:p.Cys254_Pro257del