Canonical Allele Identifier: CA2320963712

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7530160_7530180delinsACCCGGCCATTCATGTGGGGC , CM000681.2:g.7530160_7530180delinsACCCGGCCATTCATGTGGGGC	GRCh38
NC_000019.9:g.7595046_7595066delinsACCCGGCCATTCATGTGGGGC , CM000681.1:g.7595046_7595066delinsACCCGGCCATTCATGTGGGGC	GRCh37
NC_000019.8:g.7501046_7501066delinsACCCGGCCATTCATGTGGGGC	NCBI36
NG_013374.1:g.1009_1029delinsACCCGGCCATTCATGTGGGGC
NG_015806.1:g.12551_12571delinsACCCGGCCATTCATGTGGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1360-126_1360-106delinsACCCGGCCATTCATGTGGGGC MANE Select	ENSP00000264079.5:n.1360-126_1360-106delinsACCCGGCCATTCATGTGG...
ENST00000264079.10:c.1360-126_1360-106delinsACCCGGCCATTCATGTGGGGC	ENSP00000264079.5:n.1360-126_1360-106delinsACCCGGCCATTCATGTGG...
ENST00000394321.9:n.1675-126_1675-106delinsACCCGGCCATTCATGTGGGGC
ENST00000594692.1:n.356-126_356-106delinsACCCGGCCATTCATGTGGGGC
ENST00000595860.5:n.543-126_543-106delinsACCCGGCCATTCATGTGGGGC
ENST00000599334.1:c.237-275_237-255delinsACCCGGCCATTCATGTGGGGC
NM_020533.2:c.1360-126_1360-106delinsACCCGGCCATTCATGTGGGGC	NP_065394.1:n.1360-126_1360-106delinsACCCGGCCATTCATGTGGGGC
NM_020533.3:c.1360-126_1360-106delinsACCCGGCCATTCATGTGGGGC MANE Select	NP_065394.1:n.1360-126_1360-106delinsACCCGGCCATTCATGTGGGGC