Canonical Allele Identifier: CA2587948508
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528003_7528004insCC , CM000681.2:g.7528003_7528004insCC GRCh38
NC_000019.9:g.7592889_7592890insCC , CM000681.1:g.7592889_7592890insCC GRCh37
NC_000019.8:g.7498889_7498890insCC NCBI36
NG_015806.1:g.10394_10395insCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.777+43_777+44insCC MANE Select ENSP00000264079.5:n.777+43_777+44insCC
ENST00000264079.10:c.777+43_777+44insCC ENSP00000264079.5:n.777+43_777+44insCC
ENST00000394321.9:n.1092+43_1092+44insCC
NM_020533.2:c.777+43_777+44insCC NP_065394.1:n.777+43_777+44insCC
NM_020533.3:c.777+43_777+44insCC MANE Select NP_065394.1:n.777+43_777+44insCC