Canonical Allele Identifier: CA2576597032

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7528069_7528072del , CM000681.2:g.7528069_7528072del	GRCh38
NC_000019.9:g.7592955_7592958del , CM000681.1:g.7592955_7592958del	GRCh37
NC_000019.8:g.7498955_7498958del	NCBI36
NG_015806.1:g.10460_10463del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264079.11:c.778-89_778-86del MANE Select	ENSP00000264079.5:n.778-89_778-86del
ENST00000264079.10:c.778-89_778-86del	ENSP00000264079.5:n.778-89_778-86del
ENST00000394321.9:n.1093-89_1093-86del
NM_020533.2:c.778-89_778-86del	NP_065394.1:n.778-89_778-86del
NM_020533.3:c.778-89_778-86del MANE Select	NP_065394.1:n.778-89_778-86del