Canonical Allele Identifier: CA2320963763

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7530272_7530273delinsCG , CM000681.2:g.7530272_7530273delinsCG	GRCh38
NC_000019.9:g.7595158_7595159delinsCG , CM000681.1:g.7595158_7595159delinsCG	GRCh37
NC_000019.8:g.7501158_7501159delinsCG	NCBI36
NG_013374.1:g.1121_1122delinsCG
NG_015806.1:g.12663_12664delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1360-14_1360-13delinsCG MANE Select	ENSP00000264079.5:n.1360-14_1360-13delinsCG
ENST00000264079.10:c.1360-14_1360-13delinsCG	ENSP00000264079.5:n.1360-14_1360-13delinsCG
ENST00000394321.9:n.1675-14_1675-13delinsCG
ENST00000594692.1:n.356-14_356-13delinsCG
ENST00000595860.5:n.543-14_543-13delinsCG
ENST00000599334.1:c.237-163_237-162delinsCG
NM_020533.2:c.1360-14_1360-13delinsCG	NP_065394.1:n.1360-14_1360-13delinsCG
NM_020533.3:c.1360-14_1360-13delinsCG MANE Select	NP_065394.1:n.1360-14_1360-13delinsCG