Canonical Allele Identifier: CA2587948563

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7528097-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7528098_7528099del , CM000681.2:g.7528098_7528099del	GRCh38
NC_000019.9:g.7592984_7592985del , CM000681.1:g.7592984_7592985del	GRCh37
NC_000019.8:g.7498984_7498985del	NCBI36
NG_015806.1:g.10489_10490del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.778-60_778-59del MANE Select	ENSP00000264079.5:n.778-60_778-59del
ENST00000264079.10:c.778-60_778-59del	ENSP00000264079.5:n.778-60_778-59del
ENST00000394321.9:n.1093-60_1093-59del
NM_020533.2:c.778-60_778-59del	NP_065394.1:n.778-60_778-59del
NM_020533.3:c.778-60_778-59del MANE Select	NP_065394.1:n.778-60_778-59del