Canonical Allele Identifier: CA1703813766

Gene: NPC1L1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44541257_44541258delinsCA , CM000669.2:g.44541257_44541258delinsCA	GRCh38
NC_000007.13:g.44580856_44580857delinsCA , CM000669.1:g.44580856_44580857delinsCA	GRCh37
NC_000007.12:g.44547381_44547382delinsCA	NCBI36
NG_013088.1:g.5058_5059delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381160.8:c.2_3delinsTG MANE Select	ENSP00000370552.3:p.Met1=
ENST00000289547.8:c.2_3delinsTG	ENSP00000289547.4:p.Met1=
ENST00000381160.7:c.2_3delinsTG	ENSP00000370552.3:p.Met1=
ENST00000423141.1:c.2_3delinsTG	ENSP00000404670.1:p.Met1=
ENST00000546276.5:c.2_3delinsTG	ENSP00000438033.1:p.Met1=
NM_001101648.1:c.2_3delinsTG	NP_001095118.1:p.Met1=
NM_001300967.1:c.2_3delinsTG	NP_001287896.1:p.Met1=
NM_013389.2:c.2_3delinsTG	NP_037521.2:p.Met1=
XM_011515326.1:c.2_3delinsTG	XP_011513628.1:p.Met1=
XM_011515327.1:c.2_3delinsTG	XP_011513629.1:p.Met1=
XM_011515326.3:c.2_3delinsTG	XP_011513628.1:p.Met1=
XR_002956423.1:n.394_395delinsTG
NM_001101648.2:c.2_3delinsTG MANE Select	NP_001095118.1:p.Met1=
NM_001300967.2:c.2_3delinsTG	NP_001287896.1:p.Met1=
NM_013389.3:c.2_3delinsTG	NP_037521.2:p.Met1=