Canonical Allele Identifier: CA2587950455

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7533942-GGGGCGGGGAGACT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533946_7533958del , CM000681.2:g.7533946_7533958del	GRCh38
NC_000019.9:g.7598832_7598844del , CM000681.1:g.7598832_7598844del	GRCh37
NC_000019.8:g.7504832_7504844del	NCBI36
NG_013374.1:g.4795_4807del
NG_015806.1:g.16337_16349del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.*151_*163del MANE Select	ENSP00000264079.5:n.*151_*163del
ENST00000264079.10:c.*151_*163del	ENSP00000264079.5:n.*151_*163del
ENST00000394321.9:n.2209_2221del
ENST00000599334.1:c.622_634del
ENST00000601870.1:c.169+78_169+90del
ENST00000602227.1:n.448_460del
NM_020533.2:c.*151_*163del	NP_065394.1:n.*151_*163del
NM_020533.3:c.*151_*163del MANE Select	NP_065394.1:n.*151_*163del