Canonical Allele Identifier: CA2320962722

Gene: MCOLN1

Linked Data

• dbSNP Id: rs2022601670

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7528280_7528293del , CM000681.2:g.7528280_7528293del	GRCh38
NC_000019.9:g.7593166_7593179del , CM000681.1:g.7593166_7593179del	GRCh37
NC_000019.8:g.7499166_7499179del	NCBI36
NG_015806.1:g.10671_10684del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.877+23_877+36del MANE Select	ENSP00000264079.5:n.877+23_877+36del
ENST00000264079.10:c.877+23_877+36del	ENSP00000264079.5:n.877+23_877+36del
ENST00000394321.9:n.1192+23_1192+36del
NM_020533.2:c.877+23_877+36del	NP_065394.1:n.877+23_877+36del
NM_020533.3:c.877+23_877+36del MANE Select	NP_065394.1:n.877+23_877+36del