Canonical Allele Identifier: CA2320965208
Gene: MCOLN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533503_7533524delinsCTCCCGGCTTCTCTCCCCAGCA , CM000681.2:g.7533503_7533524delinsCTCCCGGCTTCTCTCCCCAGCA GRCh38
NC_000019.9:g.7598389_7598410delinsCTCCCGGCTTCTCTCCCCAGCA , CM000681.1:g.7598389_7598410delinsCTCCCGGCTTCTCTCCCCAGCA GRCh37
NC_000019.8:g.7504389_7504410delinsCTCCCGGCTTCTCTCCCCAGCA NCBI36
NG_013374.1:g.4352_4373delinsCTCCCGGCTTCTCTCCCCAGCA
NG_015806.1:g.15894_15915delinsCTCCCGGCTTCTCTCCCCAGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1576-20_1577delinsCTCCCGGCTTCTCTCCCCAGCA
ENST00000264079.10:c.1576-20_1577delinsCTCCCGGCTTCTCTCCCCAGCA
ENST00000394321.9:n.1891-20_1892delinsCTCCCGGCTTCTCTCCCCAGCA
ENST00000599334.1:c.304-20_305delinsCTCCCGGCTTCTCTCCCCAGCA
ENST00000602227.1:n.110_131delinsCTCCCGGCTTCTCTCCCCAGCA
NM_020533.2:c.1576-20_1577delinsCTCCCGGCTTCTCTCCCCAGCA
NM_020533.3:c.1576-20_1577delinsCTCCCGGCTTCTCTCCCCAGCA
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