Canonical Allele Identifier: CA2587949445

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7530163-CGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7530164_7530165del , CM000681.2:g.7530164_7530165del	GRCh38
NC_000019.9:g.7595050_7595051del , CM000681.1:g.7595050_7595051del	GRCh37
NC_000019.8:g.7501050_7501051del	NCBI36
NG_013374.1:g.1013_1014del
NG_015806.1:g.12555_12556del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1360-122_1360-121del MANE Select	ENSP00000264079.5:n.1360-122_1360-121del
ENST00000264079.10:c.1360-122_1360-121del	ENSP00000264079.5:n.1360-122_1360-121del
ENST00000394321.9:n.1675-122_1675-121del
ENST00000594692.1:n.356-122_356-121del
ENST00000595860.5:n.543-122_543-121del
ENST00000599334.1:c.237-271_237-270del
NM_020533.2:c.1360-122_1360-121del	NP_065394.1:n.1360-122_1360-121del
NM_020533.3:c.1360-122_1360-121del MANE Select	NP_065394.1:n.1360-122_1360-121del