Canonical Allele Identifier: CA2587948505
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528001_7528002insTCCCT , CM000681.2:g.7528001_7528002insTCCCT GRCh38
NC_000019.9:g.7592887_7592888insTCCCT , CM000681.1:g.7592887_7592888insTCCCT GRCh37
NC_000019.8:g.7498887_7498888insTCCCT NCBI36
NG_015806.1:g.10392_10393insTCCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.777+41_777+42insTCCCT MANE Select ENSP00000264079.5:n.777+41_777+42insTCCCT
ENST00000264079.10:c.777+41_777+42insTCCCT ENSP00000264079.5:n.777+41_777+42insTCCCT
ENST00000394321.9:n.1092+41_1092+42insTCCCT
NM_020533.2:c.777+41_777+42insTCCCT NP_065394.1:n.777+41_777+42insTCCCT
NM_020533.3:c.777+41_777+42insTCCCT MANE Select NP_065394.1:n.777+41_777+42insTCCCT