Canonical Allele Identifier: CA884315544

Gene: ELANE

Linked Data

• dbSNP Id: rs1268683958
• gnomAD v3: 19-855868-A-ACGGCTAGAAGT
• gnomAD v4: 19-855868-A-ACGGCTAGAAGT
• MyVariant Identifiers: chr19:g.855868_855869insCGGCTAGAAGT (hg19) ; chr19:g.855868_855869insCGGCTAGAAGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855869_855870insGGCTAGAAGTC , CM000681.2:g.855869_855870insGGCTAGAAGTC	GRCh38
NC_000019.9:g.855869_855870insGGCTAGAAGTC , CM000681.1:g.855869_855870insGGCTAGAAGTC	GRCh37
NC_000019.8:g.806869_806870insGGCTAGAAGTC	NCBI36
NG_007274.1:g.1205_1206insGGCTAGAAGTC , LRG_46:g.1205_1206insGGCTAGAAGTC
NG_009627.1:g.8579_8580insGGCTAGAAGTC , LRG_57:g.8579_8580insGGCTAGAAGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.597+75_597+76insGGCTAGAAGTC MANE Select	ENSP00000263621.1:n.597+75_597+76insGGCTAGAAGTC
ENST00000263621.1:c.597+75_597+76insGGCTAGAAGTC	ENSP00000263621.1:n.597+75_597+76insGGCTAGAAGTC
ENST00000590230.5:c.597+75_597+76insGGCTAGAAGTC	ENSP00000466090.1:n.597+75_597+76insGGCTAGAAGTC
NM_001972.2:c.597+75_597+76insGGCTAGAAGTC , LRG_57t1:c.597+75_597+76insGGCTAGAAGTC	NP_001963.1:n.597+75_597+76insGGCTAGAAGTC
XM_011527775.1:c.597+75_597+76insGGCTAGAAGTC	XP_011526077.1:n.597+75_597+76insGGCTAGAAGTC
XM_011527776.1:c.597+75_597+76insGGCTAGAAGTC	XP_011526078.1:n.597+75_597+76insGGCTAGAAGTC
NM_001972.3:c.597+75_597+76insGGCTAGAAGTC	NP_001963.1:n.597+75_597+76insGGCTAGAAGTC
NM_001972.4:c.597+75_597+76insGGCTAGAAGTC MANE Select	NP_001963.1:n.597+75_597+76insGGCTAGAAGTC