Canonical Allele Identifier: CA2320961192

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7525199_7525203delinsGGCCA , CM000681.2:g.7525199_7525203delinsGGCCA	GRCh38
NC_000019.9:g.7590085_7590089delinsGGCCA , CM000681.1:g.7590085_7590089delinsGGCCA	GRCh37
NC_000019.8:g.7496085_7496089delinsGGCCA	NCBI36
NG_015806.1:g.7590_7594delinsGGCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.237+33_237+37delinsGGCCA MANE Select	ENSP00000264079.5:n.237+33_237+37delinsGGCCA
ENST00000264079.10:c.237+33_237+37delinsGGCCA	ENSP00000264079.5:n.237+33_237+37delinsGGCCA
ENST00000394321.9:n.317+33_317+37delinsGGCCA
ENST00000596390.1:n.386_390delinsGGCCA
ENST00000601003.1:c.237+33_237+37delinsGGCCA	ENSP00000469074.1:n.237+33_237+37delinsGGCCA
NM_020533.2:c.237+33_237+37delinsGGCCA	NP_065394.1:n.237+33_237+37delinsGGCCA
NM_020533.3:c.237+33_237+37delinsGGCCA MANE Select	NP_065394.1:n.237+33_237+37delinsGGCCA