Canonical Allele Identifier: CA304856883

Gene: MCOLN1

Linked Data

• dbSNP Id: rs1009196017
• MyVariant Identifiers: chr19:g.7598164_7598170del (hg19) ; chr19:g.7533278_7533284del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533278_7533284del , CM000681.2:g.7533278_7533284del	GRCh38
NC_000019.9:g.7598164_7598170del , CM000681.1:g.7598164_7598170del	GRCh37
NC_000019.8:g.7504164_7504170del	NCBI36
NG_013374.1:g.4127_4133del
NG_015806.1:g.15669_15675del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1576-245_1576-239del MANE Select	ENSP00000264079.5:n.1576-245_1576-239del
ENST00000264079.10:c.1576-245_1576-239del	ENSP00000264079.5:n.1576-245_1576-239del
ENST00000394321.9:n.1891-245_1891-239del
ENST00000599334.1:c.304-245_304-239del
NM_020533.2:c.1576-245_1576-239del	NP_065394.1:n.1576-245_1576-239del
NM_020533.3:c.1576-245_1576-239del MANE Select	NP_065394.1:n.1576-245_1576-239del