Canonical Allele Identifier: CA2320965636

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533937_7533950delinsCCTTGGGGGCGGGG , CM000681.2:g.7533937_7533950delinsCCTTGGGGGCGGGG	GRCh38
NC_000019.9:g.7598823_7598836delinsCCTTGGGGGCGGGG , CM000681.1:g.7598823_7598836delinsCCTTGGGGGCGGGG	GRCh37
NC_000019.8:g.7504823_7504836delinsCCTTGGGGGCGGGG	NCBI36
NG_013374.1:g.4786_4799delinsCCTTGGGGGCGGGG
NG_015806.1:g.16328_16341delinsCCTTGGGGGCGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.*142_*155delinsCCTTGGGGGCGGGG MANE Select	ENSP00000264079.5:n.*142_*155delinsCCTTGGGGGCGGGG
ENST00000264079.10:c.*142_*155delinsCCTTGGGGGCGGGG	ENSP00000264079.5:n.*142_*155delinsCCTTGGGGGCGGGG
ENST00000394321.9:n.2200_2213delinsCCTTGGGGGCGGGG
ENST00000599334.1:c.613_626delinsCCTTGGGGGCGGGG
ENST00000601870.1:c.169+69_169+82delinsCCTTGGGGGCGGGG
ENST00000602227.1:n.439_452delinsCCTTGGGGGCGGGG
NM_020533.2:c.*142_*155delinsCCTTGGGGGCGGGG	NP_065394.1:n.*142_*155delinsCCTTGGGGGCGGGG
NM_020533.3:c.*142_*155delinsCCTTGGGGGCGGGG MANE Select	NP_065394.1:n.*142_*155delinsCCTTGGGGGCGGGG