Canonical Allele Identifier: CA2320961022

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7524764_7524766delinsCAT , CM000681.2:g.7524764_7524766delinsCAT	GRCh38
NC_000019.9:g.7589650_7589652delinsCAT , CM000681.1:g.7589650_7589652delinsCAT	GRCh37
NC_000019.8:g.7495650_7495652delinsCAT	NCBI36
NG_015806.1:g.7155_7157delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.32-197_32-195delinsCAT MANE Select	ENSP00000264079.5:n.32-197_32-195delinsCAT
ENST00000264079.10:c.32-197_32-195delinsCAT	ENSP00000264079.5:n.32-197_32-195delinsCAT
ENST00000394321.9:n.112-197_112-195delinsCAT
ENST00000596390.1:n.148-197_148-195delinsCAT
ENST00000601003.1:c.32-197_32-195delinsCAT	ENSP00000469074.1:n.32-197_32-195delinsCAT
NM_020533.2:c.32-197_32-195delinsCAT	NP_065394.1:n.32-197_32-195delinsCAT
XR_936293.1:n.189_191delinsATG
XR_936294.1:n.189_191delinsATG
XR_936295.1:n.154+35_154+37delinsATG
XR_936293.2:n.215_217delinsATG
XR_936294.2:n.215_217delinsATG
NM_020533.3:c.32-197_32-195delinsCAT MANE Select	NP_065394.1:n.32-197_32-195delinsCAT