Canonical Allele Identifier: CA2548134964

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533666_7533669del , CM000681.2:g.7533666_7533669del	GRCh38
NC_000019.9:g.7598552_7598555del , CM000681.1:g.7598552_7598555del	GRCh37
NC_000019.8:g.7504552_7504555del	NCBI36
NG_013374.1:g.4515_4518del
NG_015806.1:g.16057_16060del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264079.11:c.1706+13_1706+16del MANE Select	ENSP00000264079.5:n.1706+13_1706+16del
ENST00000264079.10:c.1706+13_1706+16del	ENSP00000264079.5:n.1706+13_1706+16del
ENST00000394321.9:n.2021+13_2021+16del
ENST00000599334.1:c.434+13_434+16del
ENST00000601870.1:c.59+13_59+16del
ENST00000602227.1:n.260+13_260+16del
NM_020533.2:c.1706+13_1706+16del	NP_065394.1:n.1706+13_1706+16del
NM_020533.3:c.1706+13_1706+16del MANE Select	NP_065394.1:n.1706+13_1706+16del