Canonical Allele Identifier: CA2317361601

Gene: ELANE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855961_855962delinsGA , CM000681.2:g.855961_855962delinsGA	GRCh38
NC_000019.9:g.855961_855962delinsGA , CM000681.1:g.855961_855962delinsGA	GRCh37
NC_000019.8:g.806961_806962delinsGA	NCBI36
NG_007274.1:g.1297_1298delinsGA , LRG_46:g.1297_1298delinsGA
NG_009627.1:g.8671_8672delinsGA , LRG_57:g.8671_8672delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.601_602delinsGA MANE Select	ENSP00000263621.1:p.Asp201=
ENST00000263621.1:c.601_602delinsGA	ENSP00000263621.1:p.Asp201=
ENST00000590230.5:c.601_602delinsGA	ENSP00000466090.1:p.Asp201=
NM_001972.2:c.601_602delinsGA , LRG_57t1:c.601_602delinsGA	NP_001963.1:p.Asp201=
XM_011527775.1:c.601_602delinsGA	XP_011526077.1:p.Asp201=
XM_011527776.1:c.601_602delinsGA	XP_011526078.1:p.Asp201=
NM_001972.3:c.601_602delinsGA	NP_001963.1:p.Asp201=
NM_001972.4:c.601_602delinsGA MANE Select	NP_001963.1:p.Asp201=