Canonical Allele Identifier: CA2587948496
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7527892-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527893del , CM000681.2:g.7527893del GRCh38
NC_000019.9:g.7592779del , CM000681.1:g.7592779del GRCh37
NC_000019.8:g.7498779del NCBI36
NG_015806.1:g.10284del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.710del MANE Select ENSP00000264079.5:p.Leu237ArgfsTer23
ENST00000264079.10:c.710del ENSP00000264079.5:p.Leu237ArgfsTer23
ENST00000394321.9:n.1025del
ENST00000601003.1:c.601del
NM_020533.2:c.710del NP_065394.1:p.Leu237ArgfsTer23
NM_020533.3:c.710del MANE Select NP_065394.1:p.Leu237ArgfsTer23
Search 100 bp 5'
Search 100 bp 3'