Canonical Allele Identifier: CA2587947937

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7526982-TCAACAGCTGTGGCTGGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7526985_7527001del , CM000681.2:g.7526985_7527001del	GRCh38
NC_000019.9:g.7591871_7591887del , CM000681.1:g.7591871_7591887del	GRCh37
NC_000019.8:g.7497871_7497887del	NCBI36
NG_015806.1:g.9376_9392del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.571+59_571+75del MANE Select	ENSP00000264079.5:n.571+59_571+75del
ENST00000264079.10:c.571+59_571+75del	ENSP00000264079.5:n.571+59_571+75del
ENST00000394321.9:n.651+59_651+75del
ENST00000596008.1:n.592_608del
ENST00000598406.1:n.392+59_392+75del
ENST00000601003.1:c.571+59_571+75del	ENSP00000469074.1:n.571+59_571+75del
NM_020533.2:c.571+59_571+75del	NP_065394.1:n.571+59_571+75del
NM_020533.3:c.571+59_571+75del MANE Select	NP_065394.1:n.571+59_571+75del