Canonical Allele Identifier: CA884203739

Gene: MCOLN1

Linked Data

• dbSNP Id: rs1313133174
• gnomAD v3: 19-7529856-CATT-C
• gnomAD v4: 19-7529856-CATT-C
• MyVariant Identifiers: chr19:g.7594743_7594745del (hg19) ; chr19:g.7529857_7529859del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529860_7529862del , CM000681.2:g.7529860_7529862del	GRCh38
NC_000019.9:g.7594746_7594748del , CM000681.1:g.7594746_7594748del	GRCh37
NC_000019.8:g.7500746_7500748del	NCBI36
NG_013374.1:g.709_711del
NG_015806.1:g.12251_12253del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1359+148_1359+150del MANE Select	ENSP00000264079.5:n.1359+148_1359+150del
ENST00000264079.10:c.1359+148_1359+150del	ENSP00000264079.5:n.1359+148_1359+150del
ENST00000394321.9:n.1674+148_1674+150del
ENST00000594692.1:n.355+148_355+150del
ENST00000595860.5:n.542+148_542+150del
ENST00000599334.1:c.236+148_236+150del
NM_020533.2:c.1359+148_1359+150del	NP_065394.1:n.1359+148_1359+150del
NM_020533.3:c.1359+148_1359+150del MANE Select	NP_065394.1:n.1359+148_1359+150del