Canonical Allele Identifier: CA631462645
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v2: 19-7594001-C-CCGTCG
gnomAD v4: 19-7529115-C-CCGTCG
MyVariant Identifiers: chr19:g.7594001_7594002insCGTCG (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529115_7529116insCGTCG , CM000681.2:g.7529115_7529116insCGTCG GRCh38
NC_000019.9:g.7594001_7594002insCGTCG , CM000681.1:g.7594001_7594002insCGTCG GRCh37
NC_000019.8:g.7500001_7500002insCGTCG NCBI36
NG_015806.1:g.11506_11507insCGTCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1149_1150insCGTCG MANE Select ENSP00000264079.5:p.Asp384ArgfsTer20
ENST00000264079.10:c.1149_1150insCGTCG ENSP00000264079.5:p.Asp384ArgfsTer20
ENST00000394321.9:n.1464_1465insCGTCG
ENST00000594692.1:n.145_146insCGTCG
ENST00000595860.5:n.332_333insCGTCG
ENST00000599334.1:c.26_27insCGTCG
NM_020533.2:c.1149_1150insCGTCG NP_065394.1:p.Asp384ArgfsTer20
NM_020533.3:c.1149_1150insCGTCG MANE Select NP_065394.1:p.Asp384ArgfsTer20
Search 100 bp 5'
Search 100 bp 3'