Canonical Allele Identifier: CA304852751
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs937469669
gnomAD v2: 19-7591535-GTGGGCGGGCAGGTGCAGT-G
gnomAD v3: 19-7526649-GTGGGCGGGCAGGTGCAGT-G
gnomAD v4: 19-7526649-GTGGGCGGGCAGGTGCAGT-G
MyVariant Identifiers: chr19:g.7591536_7591553del (hg19) chr19:g.7526650_7526667del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526665_7526682del , CM000681.2:g.7526665_7526682del GRCh38
NC_000019.9:g.7591551_7591568del , CM000681.1:g.7591551_7591568del GRCh37
NC_000019.8:g.7497551_7497568del NCBI36
NG_015806.1:g.9056_9073del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.405+59_405+76del MANE Select ENSP00000264079.5:n.405+59_405+76del
ENST00000264079.10:c.405+59_405+76del ENSP00000264079.5:n.405+59_405+76del
ENST00000394321.9:n.485+59_485+76del
ENST00000596008.1:n.367+59_367+76del
ENST00000598406.1:n.226+59_226+76del
ENST00000601003.1:c.405+59_405+76del ENSP00000469074.1:n.405+59_405+76del
NM_020533.2:c.405+59_405+76del NP_065394.1:n.405+59_405+76del
NM_020533.3:c.405+59_405+76del MANE Select NP_065394.1:n.405+59_405+76del
Search 100 bp 5'
Search 100 bp 3'