Canonical Allele Identifier: CA2813464304

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7528975_7528983del , CM000681.2:g.7528975_7528983del	GRCh38
NC_000019.9:g.7593861_7593869del , CM000681.1:g.7593861_7593869del	GRCh37
NC_000019.8:g.7499861_7499869del	NCBI36
NG_015806.1:g.11366_11374del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1134+5_1134+13del MANE Select	ENSP00000264079.5:n.1134+5_1134+13del
ENST00000264079.10:c.1134+5_1134+13del	ENSP00000264079.5:n.1134+5_1134+13del
ENST00000394321.9:n.1449+5_1449+13del
ENST00000594692.1:n.5_13del
ENST00000595860.5:n.317+5_317+13del
ENST00000599334.1:c.11+5_11+13del
NM_020533.2:c.1134+5_1134+13del	NP_065394.1:n.1134+5_1134+13del
NM_020533.3:c.1134+5_1134+13del MANE Select	NP_065394.1:n.1134+5_1134+13del