Canonical Allele Identifier: CA2320962353
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527536_7527537delinsTC , CM000681.2:g.7527536_7527537delinsTC GRCh38
NC_000019.9:g.7592422_7592423delinsTC , CM000681.1:g.7592422_7592423delinsTC GRCh37
NC_000019.8:g.7498422_7498423delinsTC NCBI36
NG_015806.1:g.9927_9928delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.588_589delinsTC MANE Select ENSP00000264079.5:p.Asp196=
ENST00000264079.10:c.588_589delinsTC ENSP00000264079.5:p.Asp196=
ENST00000394321.9:n.668_669delinsTC
ENST00000598406.1:n.409_410delinsTC
ENST00000601003.1:c.572-328_572-327delinsTC ENSP00000469074.1:n.572-328_572-327delinsTC
NM_020533.2:c.588_589delinsTC NP_065394.1:p.Asp196=
NM_020533.3:c.588_589delinsTC MANE Select NP_065394.1:p.Asp196=
Search 100 bp 5'
Search 100 bp 3'