Canonical Allele Identifier: CA2320962721

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7528279_7528293delinsCAGCACTGACCAGGG , CM000681.2:g.7528279_7528293delinsCAGCACTGACCAGGG	GRCh38
NC_000019.9:g.7593165_7593179delinsCAGCACTGACCAGGG , CM000681.1:g.7593165_7593179delinsCAGCACTGACCAGGG	GRCh37
NC_000019.8:g.7499165_7499179delinsCAGCACTGACCAGGG	NCBI36
NG_015806.1:g.10670_10684delinsCAGCACTGACCAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.877+22_877+36delinsCAGCACTGACCAGGG MANE Select	ENSP00000264079.5:n.877+22_877+36delinsCAGCACTGACCAGGG
ENST00000264079.10:c.877+22_877+36delinsCAGCACTGACCAGGG	ENSP00000264079.5:n.877+22_877+36delinsCAGCACTGACCAGGG
ENST00000394321.9:n.1192+22_1192+36delinsCAGCACTGACCAGGG
NM_020533.2:c.877+22_877+36delinsCAGCACTGACCAGGG	NP_065394.1:n.877+22_877+36delinsCAGCACTGACCAGGG
NM_020533.3:c.877+22_877+36delinsCAGCACTGACCAGGG MANE Select	NP_065394.1:n.877+22_877+36delinsCAGCACTGACCAGGG