Canonical Allele Identifier: CA2587949464

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7530165-GCCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7530166_7530168del , CM000681.2:g.7530166_7530168del	GRCh38
NC_000019.9:g.7595052_7595054del , CM000681.1:g.7595052_7595054del	GRCh37
NC_000019.8:g.7501052_7501054del	NCBI36
NG_013374.1:g.1015_1017del
NG_015806.1:g.12557_12559del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1360-120_1360-118del MANE Select	ENSP00000264079.5:n.1360-120_1360-118del
ENST00000264079.10:c.1360-120_1360-118del	ENSP00000264079.5:n.1360-120_1360-118del
ENST00000394321.9:n.1675-120_1675-118del
ENST00000594692.1:n.356-120_356-118del
ENST00000595860.5:n.543-120_543-118del
ENST00000599334.1:c.237-269_237-267del
NM_020533.2:c.1360-120_1360-118del	NP_065394.1:n.1360-120_1360-118del
NM_020533.3:c.1360-120_1360-118del MANE Select	NP_065394.1:n.1360-120_1360-118del