Canonical Allele Identifier: CA2320963652

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7530064_7530096delinsTCCCGGCCATTCACGTGGGACCCCAGCCTGGGA , CM000681.2:g.7530064_7530096delinsTCCCGGCCATTCACGTGGGACCCCAGCCTGGGA	GRCh38
NC_000019.9:g.7594950_7594982delinsTCCCGGCCATTCACGTGGGACCCCAGCCTGGGA , CM000681.1:g.7594950_7594982delinsTCCCGGCCATTCACGTGGGACCCCAGCCTGGGA	GRCh37
NC_000019.8:g.7500950_7500982delinsTCCCGGCCATTCACGTGGGACCCCAGCCTGGGA	NCBI36
NG_013374.1:g.913_945delinsTCCCGGCCATTCACGTGGGACCCCAGCCTGGGA
NG_015806.1:g.12455_12487delinsTCCCGGCCATTCACGTGGGACCCCAGCCTGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1360-222_1360-190delinsTCCCGGCCATTCACGTGGGACCCCAGCCTGGGA MANE Select	ENSP00000264079.5:n.1360-222_1360-190delinsTCCCGGCCATTCACGTGG...
ENST00000264079.10:c.1360-222_1360-190delinsTCCCGGCCATTCACGTGGGACCCCAGCCTGGGA	ENSP00000264079.5:n.1360-222_1360-190delinsTCCCGGCCATTCACGTGG...
ENST00000394321.9:n.1675-222_1675-190delinsTCCCGGCCATTCACGTGGGACCCCAGCCTGGGA
ENST00000594692.1:n.356-222_356-190delinsTCCCGGCCATTCACGTGGGACCCCAGCCTGGGA
ENST00000595860.5:n.543-222_543-190delinsTCCCGGCCATTCACGTGGGACCCCAGCCTGGGA
ENST00000599334.1:c.236+352_237-339delinsTCCCGGCCATTCACGTGGGACCCCAGCCTGGGA
NM_020533.2:c.1360-222_1360-190delinsTCCCGGCCATTCACGTGGGACCCCAGCCTGGGA	NP_065394.1:n.1360-222_1360-190delinsTCCCGGCCATTCACGTGGGACCCC...
NM_020533.3:c.1360-222_1360-190delinsTCCCGGCCATTCACGTGGGACCCCAGCCTGGGA MANE Select	NP_065394.1:n.1360-222_1360-190delinsTCCCGGCCATTCACGTGGGACCCC...