Canonical Allele Identifier: CA2813476169

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533968_7533979del , CM000681.2:g.7533968_7533979del	GRCh38
NC_000019.9:g.7598854_7598865del , CM000681.1:g.7598854_7598865del	GRCh37
NC_000019.8:g.7504854_7504865del	NCBI36
NG_013374.1:g.4817_4828del
NG_015806.1:g.16359_16370del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.*173_*184del MANE Select	ENSP00000264079.5:n.*173_*184del
ENST00000264079.10:c.*173_*184del	ENSP00000264079.5:n.*173_*184del
ENST00000394321.9:n.2231_2242del
ENST00000599334.1:c.644_655del
ENST00000601870.1:c.169+100_169+111del
ENST00000602227.1:n.470_481del
NM_020533.2:c.*173_*184del	NP_065394.1:n.*173_*184del
NM_020533.3:c.*173_*184del MANE Select	NP_065394.1:n.*173_*184del