Canonical Allele Identifier: CA2576597202

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7533571-GCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533574_7533575del , CM000681.2:g.7533574_7533575del	GRCh38
NC_000019.9:g.7598460_7598461del , CM000681.1:g.7598460_7598461del	GRCh37
NC_000019.8:g.7504460_7504461del	NCBI36
NG_013374.1:g.4423_4424del
NG_015806.1:g.15965_15966del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1627_1628del MANE Select	ENSP00000264079.5:p.Gln543ValfsTer?
ENST00000264079.10:c.1627_1628del	ENSP00000264079.5:p.Gln543ValfsTer?
ENST00000394321.9:n.1942_1943del
ENST00000599334.1:c.355_356del
ENST00000602227.1:n.181_182del
NM_020533.2:c.1627_1628del	NP_065394.1:p.Gln543ValfsTer?
NM_020533.3:c.1627_1628del MANE Select	NP_065394.1:p.Gln543ValfsTer?