Canonical Allele Identifier: CA2580097071
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2101897
ClinVar RCV Id: RCV003017136
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530343_7530344del , CM000681.2:g.7530343_7530344del GRCh38
NC_000019.9:g.7595229_7595230del , CM000681.1:g.7595229_7595230del GRCh37
NC_000019.8:g.7501229_7501230del NCBI36
NG_013374.1:g.1192_1193del
NG_015806.1:g.12734_12735del

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1417_1418del MANE Select ENSP00000264079.5:p.Met473ValfsTer?
ENST00000264079.10:c.1417_1418del ENSP00000264079.5:p.Met473ValfsTer?
ENST00000394321.9:n.1732_1733del
ENST00000594692.1:n.413_414del
ENST00000595860.5:n.600_601del
ENST00000599334.1:c.237-92_237-91del
NM_020533.2:c.1417_1418del NP_065394.1:p.Met473ValfsTer?
NM_020533.3:c.1417_1418del MANE Select NP_065394.1:p.Met473ValfsTer?
Search 100 bp 5'
Search 100 bp 3'