Canonical Allele Identifier: CA884205428

Gene: MCOLN1

Linked Data

• dbSNP Id: rs1389830390
• MyVariant Identifiers: chr19:g.7597970_7597975del (hg19) ; chr19:g.7533084_7533089del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533088_7533093del , CM000681.2:g.7533088_7533093del	GRCh38
NC_000019.9:g.7597974_7597979del , CM000681.1:g.7597974_7597979del	GRCh37
NC_000019.8:g.7503974_7503979del	NCBI36
NG_013374.1:g.3937_3942del
NG_015806.1:g.15479_15484del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1576-435_1576-430del MANE Select	ENSP00000264079.5:n.1576-435_1576-430del
ENST00000264079.10:c.1576-435_1576-430del	ENSP00000264079.5:n.1576-435_1576-430del
ENST00000394321.9:n.1891-435_1891-430del
ENST00000599334.1:c.304-435_304-430del
NM_020533.2:c.1576-435_1576-430del	NP_065394.1:n.1576-435_1576-430del
NM_020533.3:c.1576-435_1576-430del MANE Select	NP_065394.1:n.1576-435_1576-430del