Canonical Allele Identifier: CA2587950367

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7533731-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533735del , CM000681.2:g.7533735del	GRCh38
NC_000019.9:g.7598621del , CM000681.1:g.7598621del	GRCh37
NC_000019.8:g.7504621del	NCBI36
NG_013374.1:g.4584del
NG_015806.1:g.16126del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1707-24del MANE Select	ENSP00000264079.5:n.1707-24del
ENST00000264079.10:c.1707-24del	ENSP00000264079.5:n.1707-24del
ENST00000394321.9:n.2022-24del
ENST00000599334.1:c.435-24del
ENST00000601870.1:c.60-24del
ENST00000602227.1:n.261-24del
NM_020533.2:c.1707-24del	NP_065394.1:n.1707-24del
NM_020533.3:c.1707-24del MANE Select	NP_065394.1:n.1707-24del