Canonical Allele Identifier: CA2320965599

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533858_7533862delinsCTTAT , CM000681.2:g.7533858_7533862delinsCTTAT	GRCh38
NC_000019.9:g.7598744_7598748delinsCTTAT , CM000681.1:g.7598744_7598748delinsCTTAT	GRCh37
NC_000019.8:g.7504744_7504748delinsCTTAT	NCBI36
NG_013374.1:g.4707_4711delinsCTTAT
NG_015806.1:g.16249_16253delinsCTTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.*63_*67delinsCTTAT MANE Select	ENSP00000264079.5:n.*63_*67delinsCTTAT
ENST00000264079.10:c.*63_*67delinsCTTAT	ENSP00000264079.5:n.*63_*67delinsCTTAT
ENST00000394321.9:n.2121_2125delinsCTTAT
ENST00000599334.1:c.534_538delinsCTTAT
ENST00000601870.1:c.159_163delinsCTTAT
ENST00000602227.1:n.360_364delinsCTTAT
NM_020533.2:c.*63_*67delinsCTTAT	NP_065394.1:n.*63_*67delinsCTTAT
NM_020533.3:c.*63_*67delinsCTTAT MANE Select	NP_065394.1:n.*63_*67delinsCTTAT