Canonical Allele Identifier: CA2320961875

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7526637_7526673delinsAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCG , CM000681.2:g.7526637_7526673delinsAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCG	GRCh38
NC_000019.9:g.7591523_7591559delinsAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCG , CM000681.1:g.7591523_7591559delinsAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCG	GRCh37
NC_000019.8:g.7497523_7497559delinsAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCG	NCBI36
NG_015806.1:g.9028_9064delinsAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.405+31_405+67delinsAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCG MANE Select	ENSP00000264079.5:n.405+31_405+67delinsAGGCAGGTGCAGGTGGGCGGGC...
ENST00000264079.10:c.405+31_405+67delinsAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCG	ENSP00000264079.5:n.405+31_405+67delinsAGGCAGGTGCAGGTGGGCGGGC...
ENST00000394321.9:n.485+31_485+67delinsAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCG
ENST00000596008.1:n.367+31_367+67delinsAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCG
ENST00000598406.1:n.226+31_226+67delinsAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCG
ENST00000601003.1:c.405+31_405+67delinsAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCG	ENSP00000469074.1:n.405+31_405+67delinsAGGCAGGTGCAGGTGGGCGGGC...
NM_020533.2:c.405+31_405+67delinsAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCG	NP_065394.1:n.405+31_405+67delinsAGGCAGGTGCAGGTGGGCGGGCAGGTGC...
NM_020533.3:c.405+31_405+67delinsAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGTTGGGCG MANE Select	NP_065394.1:n.405+31_405+67delinsAGGCAGGTGCAGGTGGGCGGGCAGGTGC...