Canonical Allele Identifier: CA9139188

Gene: MCOLN1

Linked Data

• dbSNP Id: rs776994867
• ExAC: 19:7598389 CTCCCGGCTTCTCTCCCCAGCA / C
• gnomAD v2: 19-7598389-CTCCCGGCTTCTCTCCCCAGCA-C
• gnomAD v4: 19-7533503-CTCCCGGCTTCTCTCCCCAGCA-C
• MyVariant Identifiers: chr19:g.7598390_7598410del (hg19) ; chr19:g.7533504_7533524del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533511_7533531del , CM000681.2:g.7533511_7533531del	GRCh38
NC_000019.9:g.7598397_7598417del , CM000681.1:g.7598397_7598417del	GRCh37
NC_000019.8:g.7504397_7504417del	NCBI36
NG_013374.1:g.4360_4380del
NG_015806.1:g.15902_15922del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264079.11:c.1576-12_1584del
ENST00000264079.10:c.1576-12_1584del
ENST00000394321.9:n.1891-12_1899del
ENST00000599334.1:c.304-12_312del
ENST00000602227.1:n.118_138del
NM_020533.2:c.1576-12_1584del
NM_020533.3:c.1576-12_1584del