Canonical Allele Identifier: CA993152626

Gene: MCOLN1

Linked Data

• dbSNP Id: rs2022542422
• gnomAD v3: 19-7524764-CAT-C
• gnomAD v4: 19-7524764-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7524766_7524767del , CM000681.2:g.7524766_7524767del	GRCh38
NC_000019.9:g.7589652_7589653del , CM000681.1:g.7589652_7589653del	GRCh37
NC_000019.8:g.7495652_7495653del	NCBI36
NG_015806.1:g.7157_7158del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.32-195_32-194del MANE Select	ENSP00000264079.5:n.32-195_32-194del
ENST00000264079.10:c.32-195_32-194del	ENSP00000264079.5:n.32-195_32-194del
ENST00000394321.9:n.112-195_112-194del
ENST00000596390.1:n.148-195_148-194del
ENST00000601003.1:c.32-195_32-194del	ENSP00000469074.1:n.32-195_32-194del
NM_020533.2:c.32-195_32-194del	NP_065394.1:n.32-195_32-194del
XR_936293.1:n.189_190del
XR_936294.1:n.189_190del
XR_936295.1:n.154+35_154+36del
XR_936293.2:n.215_216del
XR_936294.2:n.215_216del
NM_020533.3:c.32-195_32-194del MANE Select	NP_065394.1:n.32-195_32-194del