Canonical Allele Identifier: CA2813475762

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7530049_7530050del , CM000681.2:g.7530049_7530050del	GRCh38
NC_000019.9:g.7594935_7594936del , CM000681.1:g.7594935_7594936del	GRCh37
NC_000019.8:g.7500935_7500936del	NCBI36
NG_013374.1:g.898_899del
NG_015806.1:g.12440_12441del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1360-237_1360-236del MANE Select	ENSP00000264079.5:n.1360-237_1360-236del
ENST00000264079.10:c.1360-237_1360-236del	ENSP00000264079.5:n.1360-237_1360-236del
ENST00000394321.9:n.1675-237_1675-236del
ENST00000594692.1:n.356-237_356-236del
ENST00000595860.5:n.543-237_543-236del
ENST00000599334.1:c.236+337_236+338del
NM_020533.2:c.1360-237_1360-236del	NP_065394.1:n.1360-237_1360-236del
NM_020533.3:c.1360-237_1360-236del MANE Select	NP_065394.1:n.1360-237_1360-236del