Canonical Allele Identifier: CA2320963606

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7530014_7530015delinsTA , CM000681.2:g.7530014_7530015delinsTA	GRCh38
NC_000019.9:g.7594900_7594901delinsTA , CM000681.1:g.7594900_7594901delinsTA	GRCh37
NC_000019.8:g.7500900_7500901delinsTA	NCBI36
NG_013374.1:g.863_864delinsTA
NG_015806.1:g.12405_12406delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1360-272_1360-271delinsTA MANE Select	ENSP00000264079.5:n.1360-272_1360-271delinsTA
ENST00000264079.10:c.1360-272_1360-271delinsTA	ENSP00000264079.5:n.1360-272_1360-271delinsTA
ENST00000394321.9:n.1675-272_1675-271delinsTA
ENST00000594692.1:n.356-272_356-271delinsTA
ENST00000595860.5:n.543-272_543-271delinsTA
ENST00000599334.1:c.236+302_236+303delinsTA
NM_020533.2:c.1360-272_1360-271delinsTA	NP_065394.1:n.1360-272_1360-271delinsTA
NM_020533.3:c.1360-272_1360-271delinsTA MANE Select	NP_065394.1:n.1360-272_1360-271delinsTA