Canonical Allele Identifier: CA2320962131

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527113_7527117delinsCACAA , CM000681.2:g.7527113_7527117delinsCACAA	GRCh38
NC_000019.9:g.7591999_7592003delinsCACAA , CM000681.1:g.7591999_7592003delinsCACAA	GRCh37
NC_000019.8:g.7497999_7498003delinsCACAA	NCBI36
NG_015806.1:g.9504_9508delinsCACAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.571+187_571+191delinsCACAA MANE Select	ENSP00000264079.5:n.571+187_571+191delinsCACAA
ENST00000264079.10:c.571+187_571+191delinsCACAA	ENSP00000264079.5:n.571+187_571+191delinsCACAA
ENST00000394321.9:n.651+187_651+191delinsCACAA
ENST00000596008.1:n.720_724delinsCACAA
ENST00000598406.1:n.392+187_392+191delinsCACAA
ENST00000601003.1:c.571+187_571+191delinsCACAA	ENSP00000469074.1:n.571+187_571+191delinsCACAA
NM_020533.2:c.571+187_571+191delinsCACAA	NP_065394.1:n.571+187_571+191delinsCACAA
NM_020533.3:c.571+187_571+191delinsCACAA MANE Select	NP_065394.1:n.571+187_571+191delinsCACAA