Canonical Allele Identifier: CA157934560

Gene: NPC1L1

Linked Data

• dbSNP Id: rs386712669

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44541302_44541307delinsGGTT , CM000669.2:g.44541302_44541307delinsGGTT	GRCh38
NC_000007.13:g.44580901_44580906delinsGGTT , CM000669.1:g.44580901_44580906delinsGGTT	GRCh37
NC_000007.12:g.44547426_44547431delinsGGTT	NCBI36
NG_013088.1:g.5009_5014delinsAACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381160.8:c.-48_-43delinsAACC MANE Select	ENSP00000370552.3:n.-48_-43delinsAACC
ENST00000289547.8:c.-48_-43delinsAACC	ENSP00000289547.4:n.-48_-43delinsAACC
ENST00000381160.7:c.-48_-43delinsAACC	ENSP00000370552.3:n.-48_-43delinsAACC
ENST00000423141.1:c.-48_-43delinsAACC	ENSP00000404670.1:n.-48_-43delinsAACC
ENST00000546276.5:c.-48_-43delinsAACC	ENSP00000438033.1:n.-48_-43delinsAACC
NM_001101648.1:c.-48_-43delinsAACC	NP_001095118.1:n.-48_-43delinsAACC
NM_001300967.1:c.-48_-43delinsAACC	NP_001287896.1:n.-48_-43delinsAACC
NM_013389.2:c.-48_-43delinsAACC	NP_037521.2:n.-48_-43delinsAACC
XM_011515326.1:c.-48_-43delinsAACC	XP_011513628.1:n.-48_-43delinsAACC
XM_011515327.1:c.-48_-43delinsAACC	XP_011513629.1:n.-48_-43delinsAACC
XM_011515326.3:c.-48_-43delinsAACC	XP_011513628.1:n.-48_-43delinsAACC
XR_002956423.1:n.345_350delinsAACC
NM_001101648.2:c.-48_-43delinsAACC MANE Select	NP_001095118.1:n.-48_-43delinsAACC
NM_001300967.2:c.-48_-43delinsAACC	NP_001287896.1:n.-48_-43delinsAACC
NM_013389.3:c.-48_-43delinsAACC	NP_037521.2:n.-48_-43delinsAACC