Canonical Allele Identifier: CA2532554942
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533658_7533659insCCT , CM000681.2:g.7533658_7533659insCCT GRCh38
NC_000019.9:g.7598544_7598545insCCT , CM000681.1:g.7598544_7598545insCCT GRCh37
NC_000019.8:g.7504544_7504545insCCT NCBI36
NG_013374.1:g.4507_4508insCCT
NG_015806.1:g.16049_16050insCCT

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1706+5_1706+6insCCT MANE Select ENSP00000264079.5:n.1706+5_1706+6insCCT
ENST00000264079.10:c.1706+5_1706+6insCCT ENSP00000264079.5:n.1706+5_1706+6insCCT
ENST00000394321.9:n.2021+5_2021+6insCCT
ENST00000599334.1:c.434+5_434+6insCCT
ENST00000601870.1:c.59+5_59+6insCCT
ENST00000602227.1:n.260+5_260+6insCCT
NM_020533.2:c.1706+5_1706+6insCCT NP_065394.1:n.1706+5_1706+6insCCT
NM_020533.3:c.1706+5_1706+6insCCT MANE Select NP_065394.1:n.1706+5_1706+6insCCT
Search 100 bp 5'
Search 100 bp 3'