Canonical Allele Identifier: CA2320961173

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7525180_7525181delinsAG , CM000681.2:g.7525180_7525181delinsAG	GRCh38
NC_000019.9:g.7590066_7590067delinsAG , CM000681.1:g.7590066_7590067delinsAG	GRCh37
NC_000019.8:g.7496066_7496067delinsAG	NCBI36
NG_015806.1:g.7571_7572delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.237+14_237+15delinsAG MANE Select	ENSP00000264079.5:n.237+14_237+15delinsAG
ENST00000264079.10:c.237+14_237+15delinsAG	ENSP00000264079.5:n.237+14_237+15delinsAG
ENST00000394321.9:n.317+14_317+15delinsAG
ENST00000596390.1:n.367_368delinsAG
ENST00000601003.1:c.237+14_237+15delinsAG	ENSP00000469074.1:n.237+14_237+15delinsAG
NM_020533.2:c.237+14_237+15delinsAG	NP_065394.1:n.237+14_237+15delinsAG
NM_020533.3:c.237+14_237+15delinsAG MANE Select	NP_065394.1:n.237+14_237+15delinsAG