Canonical Allele Identifier: CA2320965637

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533937_7533940delinsCCTT , CM000681.2:g.7533937_7533940delinsCCTT	GRCh38
NC_000019.9:g.7598823_7598826delinsCCTT , CM000681.1:g.7598823_7598826delinsCCTT	GRCh37
NC_000019.8:g.7504823_7504826delinsCCTT	NCBI36
NG_013374.1:g.4786_4789delinsCCTT
NG_015806.1:g.16328_16331delinsCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.*142_*145delinsCCTT MANE Select	ENSP00000264079.5:n.*142_*145delinsCCTT
ENST00000264079.10:c.*142_*145delinsCCTT	ENSP00000264079.5:n.*142_*145delinsCCTT
ENST00000394321.9:n.2200_2203delinsCCTT
ENST00000599334.1:c.613_616delinsCCTT
ENST00000601870.1:c.169+69_169+72delinsCCTT
ENST00000602227.1:n.439_442delinsCCTT
NM_020533.2:c.*142_*145delinsCCTT	NP_065394.1:n.*142_*145delinsCCTT
NM_020533.3:c.*142_*145delinsCCTT MANE Select	NP_065394.1:n.*142_*145delinsCCTT