Canonical Allele Identifier: CA2320965088

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533275_7533282delinsAGGTGCTG , CM000681.2:g.7533275_7533282delinsAGGTGCTG	GRCh38
NC_000019.9:g.7598161_7598168delinsAGGTGCTG , CM000681.1:g.7598161_7598168delinsAGGTGCTG	GRCh37
NC_000019.8:g.7504161_7504168delinsAGGTGCTG	NCBI36
NG_013374.1:g.4124_4131delinsAGGTGCTG
NG_015806.1:g.15666_15673delinsAGGTGCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1576-248_1576-241delinsAGGTGCTG MANE Select	ENSP00000264079.5:n.1576-248_1576-241delinsAGGTGCTG
ENST00000264079.10:c.1576-248_1576-241delinsAGGTGCTG	ENSP00000264079.5:n.1576-248_1576-241delinsAGGTGCTG
ENST00000394321.9:n.1891-248_1891-241delinsAGGTGCTG
ENST00000599334.1:c.304-248_304-241delinsAGGTGCTG
NM_020533.2:c.1576-248_1576-241delinsAGGTGCTG	NP_065394.1:n.1576-248_1576-241delinsAGGTGCTG
NM_020533.3:c.1576-248_1576-241delinsAGGTGCTG MANE Select	NP_065394.1:n.1576-248_1576-241delinsAGGTGCTG