Canonical Allele Identifier: CA2571948891

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533672_7533673del , CM000681.2:g.7533672_7533673del	GRCh38
NC_000019.9:g.7598558_7598559del , CM000681.1:g.7598558_7598559del	GRCh37
NC_000019.8:g.7504558_7504559del	NCBI36
NG_013374.1:g.4521_4522del
NG_015806.1:g.16063_16064del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264079.11:c.1706+19_1706+20del MANE Select	ENSP00000264079.5:n.1706+19_1706+20del
ENST00000264079.10:c.1706+19_1706+20del	ENSP00000264079.5:n.1706+19_1706+20del
ENST00000394321.9:n.2021+19_2021+20del
ENST00000599334.1:c.434+19_434+20del
ENST00000601870.1:c.59+19_59+20del
ENST00000602227.1:n.260+19_260+20del
NM_020533.2:c.1706+19_1706+20del	NP_065394.1:n.1706+19_1706+20del
NM_020533.3:c.1706+19_1706+20del MANE Select	NP_065394.1:n.1706+19_1706+20del