Canonical Allele Identifier: CA2587948157

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7527270-TCAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527271_7527274del , CM000681.2:g.7527271_7527274del	GRCh38
NC_000019.9:g.7592157_7592160del , CM000681.1:g.7592157_7592160del	GRCh37
NC_000019.8:g.7498157_7498160del	NCBI36
NG_015806.1:g.9662_9665del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.572-249_572-246del MANE Select	ENSP00000264079.5:n.572-249_572-246del
ENST00000264079.10:c.572-249_572-246del	ENSP00000264079.5:n.572-249_572-246del
ENST00000394321.9:n.652-249_652-246del
ENST00000598406.1:n.393-249_393-246del
ENST00000601003.1:c.571+345_571+348del	ENSP00000469074.1:n.571+345_571+348del
NM_020533.2:c.572-249_572-246del	NP_065394.1:n.572-249_572-246del
NM_020533.3:c.572-249_572-246del MANE Select	NP_065394.1:n.572-249_572-246del