Canonical Allele Identifier: CA993152578

Gene: MCOLN1

Linked Data

• dbSNP Id: rs2022541628
• gnomAD v3: 19-7524711-TGAGCAGGAG-T
• gnomAD v4: 19-7524711-TGAGCAGGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7524713_7524721del , CM000681.2:g.7524713_7524721del	GRCh38
NC_000019.9:g.7589599_7589607del , CM000681.1:g.7589599_7589607del	GRCh37
NC_000019.8:g.7495599_7495607del	NCBI36
NG_015806.1:g.7104_7112del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.32-248_32-240del MANE Select	ENSP00000264079.5:n.32-248_32-240del
ENST00000264079.10:c.32-248_32-240del	ENSP00000264079.5:n.32-248_32-240del
ENST00000394321.9:n.112-248_112-240del
ENST00000596390.1:n.148-248_148-240del
ENST00000601003.1:c.32-248_32-240del	ENSP00000469074.1:n.32-248_32-240del
NM_020533.2:c.32-248_32-240del	NP_065394.1:n.32-248_32-240del
XR_936293.1:n.235_243del
XR_936294.1:n.235_243del
XR_936295.1:n.154+81_154+89del
XR_936293.2:n.261_269del
XR_936294.2:n.261_269del
NM_020533.3:c.32-248_32-240del MANE Select	NP_065394.1:n.32-248_32-240del