Canonical Allele Identifier: CA2320965583

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533845_7533846delinsGC , CM000681.2:g.7533845_7533846delinsGC	GRCh38
NC_000019.9:g.7598731_7598732delinsGC , CM000681.1:g.7598731_7598732delinsGC	GRCh37
NC_000019.8:g.7504731_7504732delinsGC	NCBI36
NG_013374.1:g.4694_4695delinsGC
NG_015806.1:g.16236_16237delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.*50_*51delinsGC MANE Select	ENSP00000264079.5:n.*50_*51delinsGC
ENST00000264079.10:c.*50_*51delinsGC	ENSP00000264079.5:n.*50_*51delinsGC
ENST00000394321.9:n.2108_2109delinsGC
ENST00000599334.1:c.521_522delinsGC
ENST00000601870.1:c.146_147delinsGC
ENST00000602227.1:n.347_348delinsGC
NM_020533.2:c.*50_*51delinsGC	NP_065394.1:n.*50_*51delinsGC
NM_020533.3:c.*50_*51delinsGC MANE Select	NP_065394.1:n.*50_*51delinsGC