Canonical Allele Identifier: CA2813464258
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526502_7526503del , CM000681.2:g.7526502_7526503del GRCh38
NC_000019.9:g.7591388_7591389del , CM000681.1:g.7591388_7591389del GRCh37
NC_000019.8:g.7497388_7497389del NCBI36
NG_015806.1:g.8893_8894del

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.301_302del MANE Select ENSP00000264079.5:p.Phe101ProfsTer14
ENST00000264079.10:c.301_302del ENSP00000264079.5:p.Phe101ProfsTer14
ENST00000394321.9:n.381_382del
ENST00000596008.1:n.263_264del
ENST00000598406.1:n.122_123del
ENST00000601003.1:c.301_302del ENSP00000469074.1:p.Phe101ProfsTer14
NM_020533.2:c.301_302del NP_065394.1:p.Phe101ProfsTer14
NM_020533.3:c.301_302del MANE Select NP_065394.1:p.Phe101ProfsTer14
Search 100 bp 5'
Search 100 bp 3'