Canonical Allele Identifier: CA631462779
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs937469669
gnomAD v2: 19-7591535-G-GTGGGCGGGCAGGTGCAGT
gnomAD v4: 19-7526649-G-GTGGGCGGGCAGGTGCAGT
MyVariant Identifiers: chr19:g.7591553_7591554insTGGGCGGGCAGGTGCAGT (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526665_7526682dup , CM000681.2:g.7526665_7526682dup GRCh38
NC_000019.9:g.7591551_7591568dup , CM000681.1:g.7591551_7591568dup GRCh37
NC_000019.8:g.7497551_7497568dup NCBI36
NG_015806.1:g.9056_9073dup

Transcript Alleles

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