Canonical Allele Identifier: CA2320962287
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527389_7527391delinsCAG , CM000681.2:g.7527389_7527391delinsCAG GRCh38
NC_000019.9:g.7592275_7592277delinsCAG , CM000681.1:g.7592275_7592277delinsCAG GRCh37
NC_000019.8:g.7498275_7498277delinsCAG NCBI36
NG_015806.1:g.9780_9782delinsCAG

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.572-131_572-129delinsCAG MANE Select ENSP00000264079.5:n.572-131_572-129delinsCAG
ENST00000264079.10:c.572-131_572-129delinsCAG ENSP00000264079.5:n.572-131_572-129delinsCAG
ENST00000394321.9:n.652-131_652-129delinsCAG
ENST00000598406.1:n.393-131_393-129delinsCAG
ENST00000601003.1:c.571+463_571+465delinsCAG ENSP00000469074.1:n.571+463_571+465delinsCAG
NM_020533.2:c.572-131_572-129delinsCAG NP_065394.1:n.572-131_572-129delinsCAG
NM_020533.3:c.572-131_572-129delinsCAG MANE Select NP_065394.1:n.572-131_572-129delinsCAG
Search 100 bp 5'
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