Canonical Allele Identifier: CA2320962470

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527731_7527732delinsGC , CM000681.2:g.7527731_7527732delinsGC	GRCh38
NC_000019.9:g.7592617_7592618delinsGC , CM000681.1:g.7592617_7592618delinsGC	GRCh37
NC_000019.8:g.7498617_7498618delinsGC	NCBI36
NG_015806.1:g.10122_10123delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.680+103_680+104delinsGC MANE Select	ENSP00000264079.5:n.680+103_680+104delinsGC
ENST00000264079.10:c.680+103_680+104delinsGC	ENSP00000264079.5:n.680+103_680+104delinsGC
ENST00000394321.9:n.863_864delinsGC
ENST00000598406.1:n.604_605delinsGC
ENST00000601003.1:c.572-133_572-132delinsGC	ENSP00000469074.1:n.572-133_572-132delinsGC
NM_020533.2:c.680+103_680+104delinsGC	NP_065394.1:n.680+103_680+104delinsGC
NM_020533.3:c.680+103_680+104delinsGC MANE Select	NP_065394.1:n.680+103_680+104delinsGC