Canonical Allele Identifier: CA2524676392

Gene: NPC1L1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44539082_44539083insGA , CM000669.2:g.44539082_44539083insGA	GRCh38
NC_000007.13:g.44578681_44578682insGA , CM000669.1:g.44578681_44578682insGA	GRCh37
NC_000007.12:g.44545206_44545207insGA	NCBI36
NG_013088.1:g.7233_7234insTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381160.8:c.1314_1315insTC MANE Select	ENSP00000370552.3:p.Asp439SerfsTer8
ENST00000289547.8:c.1314_1315insTC	ENSP00000289547.4:p.Asp439SerfsTer8
ENST00000381160.7:c.1314_1315insTC	ENSP00000370552.3:p.Asp439SerfsTer8
ENST00000423141.1:c.1314_1315insTC	ENSP00000404670.1:p.Asp439SerfsTer8
ENST00000546276.5:c.1314_1315insTC	ENSP00000438033.1:p.Asp439SerfsTer8
NM_001101648.1:c.1314_1315insTC	NP_001095118.1:p.Asp439SerfsTer8
NM_001300967.1:c.1314_1315insTC	NP_001287896.1:p.Asp439SerfsTer8
NM_013389.2:c.1314_1315insTC	NP_037521.2:p.Asp439SerfsTer8
XM_011515326.1:c.1314_1315insTC	XP_011513628.1:p.Asp439SerfsTer8
XM_011515327.1:c.1314_1315insTC	XP_011513629.1:p.Asp439SerfsTer8
XM_011515328.1:c.-54_-53insTC	XP_011513630.1:n.-54_-53insTC
XM_011515326.3:c.1314_1315insTC	XP_011513628.1:p.Asp439SerfsTer8
XM_011515328.2:c.-54_-53insTC	XP_011513630.1:n.-54_-53insTC
XR_002956423.1:n.1706_1707insTC
NM_001101648.2:c.1314_1315insTC MANE Select	NP_001095118.1:p.Asp439SerfsTer8
NM_001300967.2:c.1314_1315insTC	NP_001287896.1:p.Asp439SerfsTer8
NM_013389.3:c.1314_1315insTC	NP_037521.2:p.Asp439SerfsTer8