Canonical Allele Identifier: CA2320962458

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527723_7527724delinsGC , CM000681.2:g.7527723_7527724delinsGC	GRCh38
NC_000019.9:g.7592609_7592610delinsGC , CM000681.1:g.7592609_7592610delinsGC	GRCh37
NC_000019.8:g.7498609_7498610delinsGC	NCBI36
NG_015806.1:g.10114_10115delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.680+95_680+96delinsGC MANE Select	ENSP00000264079.5:n.680+95_680+96delinsGC
ENST00000264079.10:c.680+95_680+96delinsGC	ENSP00000264079.5:n.680+95_680+96delinsGC
ENST00000394321.9:n.855_856delinsGC
ENST00000598406.1:n.596_597delinsGC
ENST00000601003.1:c.572-141_572-140delinsGC	ENSP00000469074.1:n.572-141_572-140delinsGC
NM_020533.2:c.680+95_680+96delinsGC	NP_065394.1:n.680+95_680+96delinsGC
NM_020533.3:c.680+95_680+96delinsGC MANE Select	NP_065394.1:n.680+95_680+96delinsGC