Canonical Allele Identifier: CA2320963681

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7530109_7530111delinsCAG , CM000681.2:g.7530109_7530111delinsCAG	GRCh38
NC_000019.9:g.7594995_7594997delinsCAG , CM000681.1:g.7594995_7594997delinsCAG	GRCh37
NC_000019.8:g.7500995_7500997delinsCAG	NCBI36
NG_013374.1:g.958_960delinsCAG
NG_015806.1:g.12500_12502delinsCAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000264079.11:c.1360-177_1360-175delinsCAG MANE Select	ENSP00000264079.5:n.1360-177_1360-175delinsCAG
ENST00000264079.10:c.1360-177_1360-175delinsCAG	ENSP00000264079.5:n.1360-177_1360-175delinsCAG
ENST00000394321.9:n.1675-177_1675-175delinsCAG
ENST00000594692.1:n.356-177_356-175delinsCAG
ENST00000595860.5:n.543-177_543-175delinsCAG
ENST00000599334.1:c.237-326_237-324delinsCAG
NM_020533.2:c.1360-177_1360-175delinsCAG	NP_065394.1:n.1360-177_1360-175delinsCAG
NM_020533.3:c.1360-177_1360-175delinsCAG MANE Select	NP_065394.1:n.1360-177_1360-175delinsCAG