Canonical Allele Identifier: CA2320963586

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529984_7530017delinsGGACCCCAGCCTGGGACCTGGCCATTCACATAGT , CM000681.2:g.7529984_7530017delinsGGACCCCAGCCTGGGACCTGGCCATTCACATAGT	GRCh38
NC_000019.9:g.7594870_7594903delinsGGACCCCAGCCTGGGACCTGGCCATTCACATAGT , CM000681.1:g.7594870_7594903delinsGGACCCCAGCCTGGGACCTGGCCATTCACATAGT	GRCh37
NC_000019.8:g.7500870_7500903delinsGGACCCCAGCCTGGGACCTGGCCATTCACATAGT	NCBI36
NG_013374.1:g.833_866delinsGGACCCCAGCCTGGGACCTGGCCATTCACATAGT
NG_015806.1:g.12375_12408delinsGGACCCCAGCCTGGGACCTGGCCATTCACATAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1359+272_1360-269delinsGGACCCCAGCCTGGGACCTGGCCATTCACATAGT MANE Select	ENSP00000264079.5:n.1359+272_1360-269delinsGGACCCCAGCCTGGGACC...
ENST00000264079.10:c.1359+272_1360-269delinsGGACCCCAGCCTGGGACCTGGCCATTCACATAGT	ENSP00000264079.5:n.1359+272_1360-269delinsGGACCCCAGCCTGGGACC...
ENST00000394321.9:n.1674+272_1675-269delinsGGACCCCAGCCTGGGACCTGGCCATTCACATAGT
ENST00000594692.1:n.355+272_356-269delinsGGACCCCAGCCTGGGACCTGGCCATTCACATAGT
ENST00000595860.5:n.542+272_543-269delinsGGACCCCAGCCTGGGACCTGGCCATTCACATAGT
ENST00000599334.1:c.236+272_236+305delinsGGACCCCAGCCTGGGACCTGGCCATTCACATAGT
NM_020533.2:c.1359+272_1360-269delinsGGACCCCAGCCTGGGACCTGGCCATTCACATAGT	NP_065394.1:n.1359+272_1360-269delinsGGACCCCAGCCTGGGACCTGGCCA...
NM_020533.3:c.1359+272_1360-269delinsGGACCCCAGCCTGGGACCTGGCCATTCACATAGT MANE Select	NP_065394.1:n.1359+272_1360-269delinsGGACCCCAGCCTGGGACCTGGCCA...