Canonical Allele Identifier: CA993153915
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2022585295
gnomAD v3: 19-7527270-T-TAA
gnomAD v4: 19-7527270-T-TAA
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527270_7527271insAA , CM000681.2:g.7527270_7527271insAA GRCh38
NC_000019.9:g.7592156_7592157insAA , CM000681.1:g.7592156_7592157insAA GRCh37
NC_000019.8:g.7498156_7498157insAA NCBI36
NG_015806.1:g.9661_9662insAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.572-250_572-249insAA MANE Select ENSP00000264079.5:n.572-250_572-249insAA
ENST00000264079.10:c.572-250_572-249insAA ENSP00000264079.5:n.572-250_572-249insAA
ENST00000394321.9:n.652-250_652-249insAA
ENST00000598406.1:n.393-250_393-249insAA
ENST00000601003.1:c.571+344_571+345insAA ENSP00000469074.1:n.571+344_571+345insAA
NM_020533.2:c.572-250_572-249insAA NP_065394.1:n.572-250_572-249insAA
NM_020533.3:c.572-250_572-249insAA MANE Select NP_065394.1:n.572-250_572-249insAA
Search 100 bp 5'
Search 100 bp 3'