Canonical Allele Identifier: CA2682630754

Gene: NPC1L1

Linked Data

• gnomAD v4: 7-44541273-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44541277del , CM000669.2:g.44541277del	GRCh38
NC_000007.13:g.44580876del , CM000669.1:g.44580876del	GRCh37
NC_000007.12:g.44547401del	NCBI36
NG_013088.1:g.5042del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381160.8:c.-15del MANE Select	ENSP00000370552.3:n.-15del
ENST00000289547.8:c.-15del	ENSP00000289547.4:n.-15del
ENST00000381160.7:c.-15del	ENSP00000370552.3:n.-15del
ENST00000423141.1:c.-15del	ENSP00000404670.1:n.-15del
ENST00000546276.5:c.-15del	ENSP00000438033.1:n.-15del
NM_001101648.1:c.-15del	NP_001095118.1:n.-15del
NM_001300967.1:c.-15del	NP_001287896.1:n.-15del
NM_013389.2:c.-15del	NP_037521.2:n.-15del
XM_011515326.1:c.-15del	XP_011513628.1:n.-15del
XM_011515327.1:c.-15del	XP_011513629.1:n.-15del
XM_011515326.3:c.-15del	XP_011513628.1:n.-15del
XR_002956423.1:n.378del
NM_001101648.2:c.-15del MANE Select	NP_001095118.1:n.-15del
NM_001300967.2:c.-15del	NP_001287896.1:n.-15del
NM_013389.3:c.-15del	NP_037521.2:n.-15del