Canonical Allele Identifier: CA2320962713
Gene: MCOLN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528254_7528257delinsCACG , CM000681.2:g.7528254_7528257delinsCACG GRCh38
NC_000019.9:g.7593140_7593143delinsCACG , CM000681.1:g.7593140_7593143delinsCACG GRCh37
NC_000019.8:g.7499140_7499143delinsCACG NCBI36
NG_015806.1:g.10645_10648delinsCACG

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.874_877delinsCACG MANE Select ENSP00000264079.5:p.His292=
ENST00000264079.10:c.874_877delinsCACG ENSP00000264079.5:p.His292=
ENST00000394321.9:n.1189_1192delinsCACG
NM_020533.2:c.874_877delinsCACG NP_065394.1:p.His292=
NM_020533.3:c.874_877delinsCACG MANE Select NP_065394.1:p.His292=
Search 100 bp 5'
Search 100 bp 3'