Canonical Allele Identifier: CA631462776
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1568398575
gnomAD v2: 19-7591523-AGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCG-A
gnomAD v3: 19-7526637-AGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCG-A
gnomAD v4: 19-7526637-AGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCG-A
MyVariant Identifiers: chr19:g.7591524_7591559del (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526647_7526682del , CM000681.2:g.7526647_7526682del GRCh38
NC_000019.9:g.7591533_7591568del , CM000681.1:g.7591533_7591568del GRCh37
NC_000019.8:g.7497533_7497568del NCBI36
NG_015806.1:g.9038_9073del

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.405+41_405+76del MANE Select ENSP00000264079.5:n.405+41_405+76del
ENST00000264079.10:c.405+41_405+76del ENSP00000264079.5:n.405+41_405+76del
ENST00000394321.9:n.485+41_485+76del
ENST00000596008.1:n.367+41_367+76del
ENST00000598406.1:n.226+41_226+76del
ENST00000601003.1:c.405+41_405+76del ENSP00000469074.1:n.405+41_405+76del
NM_020533.2:c.405+41_405+76del NP_065394.1:n.405+41_405+76del
NM_020533.3:c.405+41_405+76del MANE Select NP_065394.1:n.405+41_405+76del
Search 100 bp 5'
Search 100 bp 3'