Canonical Allele Identifier: CA2320962562
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527896_7527897delinsAG , CM000681.2:g.7527896_7527897delinsAG GRCh38
NC_000019.9:g.7592782_7592783delinsAG , CM000681.1:g.7592782_7592783delinsAG GRCh37
NC_000019.8:g.7498782_7498783delinsAG NCBI36
NG_015806.1:g.10287_10288delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.713_714delinsAG MANE Select ENSP00000264079.5:p.Lys238=
ENST00000264079.10:c.713_714delinsAG ENSP00000264079.5:p.Lys238=
ENST00000394321.9:n.1028_1029delinsAG
NM_020533.2:c.713_714delinsAG NP_065394.1:p.Lys238=
NM_020533.3:c.713_714delinsAG MANE Select NP_065394.1:p.Lys238=
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Search 100 bp 3'