Canonical Allele Identifier: CA884198874
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1484997360
MyVariant Identifiers: chr19:g.7590023_7590037del (hg19) chr19:g.7525137_7525151del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525144_7525158del , CM000681.2:g.7525144_7525158del GRCh38
NC_000019.9:g.7590030_7590044del , CM000681.1:g.7590030_7590044del GRCh37
NC_000019.8:g.7496030_7496044del NCBI36
NG_015806.1:g.7535_7549del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.215_229del MANE Select ENSP00000264079.5:p.Lys72_Val76del
ENST00000264079.10:c.215_229del ENSP00000264079.5:p.Lys72_Val76del
ENST00000394321.9:n.295_309del
ENST00000596390.1:n.331_345del
ENST00000601003.1:c.215_229del ENSP00000469074.1:p.Lys72_Val76del
NM_020533.2:c.215_229del NP_065394.1:p.Lys72_Val76del
NM_020533.3:c.215_229del MANE Select NP_065394.1:p.Lys72_Val76del
Search 100 bp 5'
Search 100 bp 3'