Canonical Allele Identifier: CA2695227806

Gene: ELANE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855787_855788insTTTTT , CM000681.2:g.855787_855788insTTTTT	GRCh38
NC_000019.9:g.855787_855788insTTTTT , CM000681.1:g.855787_855788insTTTTT	GRCh37
NC_000019.8:g.806787_806788insTTTTT	NCBI36
NG_007274.1:g.1123_1124insTTTTT , LRG_46:g.1123_1124insTTTTT
NG_009627.1:g.8497_8498insTTTTT , LRG_57:g.8497_8498insTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.590_591insTTTTT MANE Select	ENSP00000263621.1:p.Cys198PhefsTer16
ENST00000263621.1:c.590_591insTTTTT	ENSP00000263621.1:p.Cys198PhefsTer16
ENST00000590230.5:c.590_591insTTTTT	ENSP00000466090.1:p.Cys198PhefsTer16
NM_001972.2:c.590_591insTTTTT , LRG_57t1:c.590_591insTTTTT	NP_001963.1:p.Cys198PhefsTer16
XM_011527775.1:c.590_591insTTTTT	XP_011526077.1:p.Cys198PhefsTer16
XM_011527776.1:c.590_591insTTTTT	XP_011526078.1:p.Cys198PhefsTer16
NM_001972.3:c.590_591insTTTTT	NP_001963.1:p.Cys198PhefsTer16
NM_001972.4:c.590_591insTTTTT MANE Select	NP_001963.1:p.Cys198PhefsTer16