Canonical Allele Identifier: CA2320963097
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529040_7529041delinsTC , CM000681.2:g.7529040_7529041delinsTC GRCh38
NC_000019.9:g.7593926_7593927delinsTC , CM000681.1:g.7593926_7593927delinsTC GRCh37
NC_000019.8:g.7499926_7499927delinsTC NCBI36
NG_015806.1:g.11431_11432delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1135-61_1135-60delinsTC MANE Select ENSP00000264079.5:n.1135-61_1135-60delinsTC
ENST00000264079.10:c.1135-61_1135-60delinsTC ENSP00000264079.5:n.1135-61_1135-60delinsTC
ENST00000394321.9:n.1450-61_1450-60delinsTC
ENST00000594692.1:n.70_71delinsTC
ENST00000595860.5:n.318-61_318-60delinsTC
ENST00000599334.1:c.12-61_12-60delinsTC
NM_020533.2:c.1135-61_1135-60delinsTC NP_065394.1:n.1135-61_1135-60delinsTC
NM_020533.3:c.1135-61_1135-60delinsTC MANE Select NP_065394.1:n.1135-61_1135-60delinsTC
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