Canonical Allele Identifier: CA2320961816
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526519_7526527delinsGCTGGGCTA , CM000681.2:g.7526519_7526527delinsGCTGGGCTA GRCh38
NC_000019.9:g.7591405_7591413delinsGCTGGGCTA , CM000681.1:g.7591405_7591413delinsGCTGGGCTA GRCh37
NC_000019.8:g.7497405_7497413delinsGCTGGGCTA NCBI36
NG_015806.1:g.8910_8918delinsGCTGGGCTA

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.318_326delinsGCTGGGCTA MANE Select ENSP00000264079.5:p.Leu106=
ENST00000264079.10:c.318_326delinsGCTGGGCTA ENSP00000264079.5:p.Leu106=
ENST00000394321.9:n.398_406delinsGCTGGGCTA
ENST00000596008.1:n.280_288delinsGCTGGGCTA
ENST00000598406.1:n.139_147delinsGCTGGGCTA
ENST00000601003.1:c.318_326delinsGCTGGGCTA ENSP00000469074.1:p.Leu106=
NM_020533.2:c.318_326delinsGCTGGGCTA NP_065394.1:p.Leu106=
NM_020533.3:c.318_326delinsGCTGGGCTA MANE Select NP_065394.1:p.Leu106=
Search 100 bp 5'
Search 100 bp 3'