Canonical Allele Identifier: CA993153872
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v3: 19-7527262-ACCCTGTCTC-A
gnomAD v4: 19-7527262-ACCCTGTCTC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527263_7527271del , CM000681.2:g.7527263_7527271del GRCh38
NC_000019.9:g.7592149_7592157del , CM000681.1:g.7592149_7592157del GRCh37
NC_000019.8:g.7498149_7498157del NCBI36
NG_015806.1:g.9654_9662del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.572-257_572-249del MANE Select ENSP00000264079.5:n.572-257_572-249del
ENST00000264079.10:c.572-257_572-249del ENSP00000264079.5:n.572-257_572-249del
ENST00000394321.9:n.652-257_652-249del
ENST00000598406.1:n.393-257_393-249del
ENST00000601003.1:c.571+337_571+345del ENSP00000469074.1:n.571+337_571+345del
NM_020533.2:c.572-257_572-249del NP_065394.1:n.572-257_572-249del
NM_020533.3:c.572-257_572-249del MANE Select NP_065394.1:n.572-257_572-249del
Search 100 bp 5'
Search 100 bp 3'