Canonical Allele Identifier: CA2320965078

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533256_7533257delinsGC , CM000681.2:g.7533256_7533257delinsGC	GRCh38
NC_000019.9:g.7598142_7598143delinsGC , CM000681.1:g.7598142_7598143delinsGC	GRCh37
NC_000019.8:g.7504142_7504143delinsGC	NCBI36
NG_013374.1:g.4105_4106delinsGC
NG_015806.1:g.15647_15648delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1576-267_1576-266delinsGC MANE Select	ENSP00000264079.5:n.1576-267_1576-266delinsGC
ENST00000264079.10:c.1576-267_1576-266delinsGC	ENSP00000264079.5:n.1576-267_1576-266delinsGC
ENST00000394321.9:n.1891-267_1891-266delinsGC
ENST00000599334.1:c.304-267_304-266delinsGC
NM_020533.2:c.1576-267_1576-266delinsGC	NP_065394.1:n.1576-267_1576-266delinsGC
NM_020533.3:c.1576-267_1576-266delinsGC MANE Select	NP_065394.1:n.1576-267_1576-266delinsGC