Canonical Allele Identifier: CA2320962914
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528652_7528656delinsGTCCT , CM000681.2:g.7528652_7528656delinsGTCCT GRCh38
NC_000019.9:g.7593538_7593542delinsGTCCT , CM000681.1:g.7593538_7593542delinsGTCCT GRCh37
NC_000019.8:g.7499538_7499542delinsGTCCT NCBI36
NG_015806.1:g.11043_11047delinsGTCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.933_937delinsGTCCT MANE Select ENSP00000264079.5:p.Leu311=
ENST00000264079.10:c.933_937delinsGTCCT ENSP00000264079.5:p.Leu311=
ENST00000394321.9:n.1248_1252delinsGTCCT
NM_020533.2:c.933_937delinsGTCCT NP_065394.1:p.Leu311=
NM_020533.3:c.933_937delinsGTCCT MANE Select NP_065394.1:p.Leu311=
Search 100 bp 5'
Search 100 bp 3'