Canonical Allele Identifier: CA2320962586

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527966_7527967delinsGC , CM000681.2:g.7527966_7527967delinsGC	GRCh38
NC_000019.9:g.7592852_7592853delinsGC , CM000681.1:g.7592852_7592853delinsGC	GRCh37
NC_000019.8:g.7498852_7498853delinsGC	NCBI36
NG_015806.1:g.10357_10358delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.777+6_777+7delinsGC MANE Select	ENSP00000264079.5:n.777+6_777+7delinsGC
ENST00000264079.10:c.777+6_777+7delinsGC	ENSP00000264079.5:n.777+6_777+7delinsGC
ENST00000394321.9:n.1092+6_1092+7delinsGC
NM_020533.2:c.777+6_777+7delinsGC	NP_065394.1:n.777+6_777+7delinsGC
NM_020533.3:c.777+6_777+7delinsGC MANE Select	NP_065394.1:n.777+6_777+7delinsGC