Canonical Allele Identifier: CA2320961874
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526637_7526655delinsAGGCAGGTGCAGGTGGGCG , CM000681.2:g.7526637_7526655delinsAGGCAGGTGCAGGTGGGCG GRCh38
NC_000019.9:g.7591523_7591541delinsAGGCAGGTGCAGGTGGGCG , CM000681.1:g.7591523_7591541delinsAGGCAGGTGCAGGTGGGCG GRCh37
NC_000019.8:g.7497523_7497541delinsAGGCAGGTGCAGGTGGGCG NCBI36
NG_015806.1:g.9028_9046delinsAGGCAGGTGCAGGTGGGCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.405+31_405+49delinsAGGCAGGTGCAGGTGGGCG MANE Select ENSP00000264079.5:n.405+31_405+49delinsAGGCAGGTGCAGGTGGGCG
ENST00000264079.10:c.405+31_405+49delinsAGGCAGGTGCAGGTGGGCG ENSP00000264079.5:n.405+31_405+49delinsAGGCAGGTGCAGGTGGGCG
ENST00000394321.9:n.485+31_485+49delinsAGGCAGGTGCAGGTGGGCG
ENST00000596008.1:n.367+31_367+49delinsAGGCAGGTGCAGGTGGGCG
ENST00000598406.1:n.226+31_226+49delinsAGGCAGGTGCAGGTGGGCG
ENST00000601003.1:c.405+31_405+49delinsAGGCAGGTGCAGGTGGGCG ENSP00000469074.1:n.405+31_405+49delinsAGGCAGGTGCAGGTGGGCG
NM_020533.2:c.405+31_405+49delinsAGGCAGGTGCAGGTGGGCG NP_065394.1:n.405+31_405+49delinsAGGCAGGTGCAGGTGGGCG
NM_020533.3:c.405+31_405+49delinsAGGCAGGTGCAGGTGGGCG MANE Select NP_065394.1:n.405+31_405+49delinsAGGCAGGTGCAGGTGGGCG
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