Canonical Allele Identifier: CA2320962431

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527683_7527685delinsACT , CM000681.2:g.7527683_7527685delinsACT	GRCh38
NC_000019.9:g.7592569_7592571delinsACT , CM000681.1:g.7592569_7592571delinsACT	GRCh37
NC_000019.8:g.7498569_7498571delinsACT	NCBI36
NG_015806.1:g.10074_10076delinsACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.680+55_680+57delinsACT MANE Select	ENSP00000264079.5:n.680+55_680+57delinsACT
ENST00000264079.10:c.680+55_680+57delinsACT	ENSP00000264079.5:n.680+55_680+57delinsACT
ENST00000394321.9:n.815_817delinsACT
ENST00000598406.1:n.556_558delinsACT
ENST00000601003.1:c.572-181_572-179delinsACT	ENSP00000469074.1:n.572-181_572-179delinsACT
NM_020533.2:c.680+55_680+57delinsACT	NP_065394.1:n.680+55_680+57delinsACT
NM_020533.3:c.680+55_680+57delinsACT MANE Select	NP_065394.1:n.680+55_680+57delinsACT