Canonical Allele Identifier: CA2576597060

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7528258-GTGAGCCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7528267_7528274del , CM000681.2:g.7528267_7528274del	GRCh38
NC_000019.9:g.7593153_7593160del , CM000681.1:g.7593153_7593160del	GRCh37
NC_000019.8:g.7499153_7499160del	NCBI36
NG_015806.1:g.10658_10665del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.877+10_877+17del MANE Select	ENSP00000264079.5:n.877+10_877+17del
ENST00000264079.10:c.877+10_877+17del	ENSP00000264079.5:n.877+10_877+17del
ENST00000394321.9:n.1192+10_1192+17del
NM_020533.2:c.877+10_877+17del	NP_065394.1:n.877+10_877+17del
NM_020533.3:c.877+10_877+17del MANE Select	NP_065394.1:n.877+10_877+17del