Canonical Allele Identifier: CA304854975

Gene: MCOLN1

Linked Data

• dbSNP Id: rs987070219
• gnomAD v2: 19-7594995-CAG-C
• gnomAD v3: 19-7530109-CAG-C
• gnomAD v4: 19-7530109-CAG-C
• MyVariant Identifiers: chr19:g.7594996_7594997del (hg19) ; chr19:g.7530110_7530111del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7530110_7530111del , CM000681.2:g.7530110_7530111del	GRCh38
NC_000019.9:g.7594996_7594997del , CM000681.1:g.7594996_7594997del	GRCh37
NC_000019.8:g.7500996_7500997del	NCBI36
NG_013374.1:g.959_960del
NG_015806.1:g.12501_12502del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264079.11:c.1360-176_1360-175del MANE Select	ENSP00000264079.5:n.1360-176_1360-175del
ENST00000264079.10:c.1360-176_1360-175del	ENSP00000264079.5:n.1360-176_1360-175del
ENST00000394321.9:n.1675-176_1675-175del
ENST00000594692.1:n.356-176_356-175del
ENST00000595860.5:n.543-176_543-175del
ENST00000599334.1:c.237-325_237-324del
NM_020533.2:c.1360-176_1360-175del	NP_065394.1:n.1360-176_1360-175del
NM_020533.3:c.1360-176_1360-175del MANE Select	NP_065394.1:n.1360-176_1360-175del