Canonical Allele Identifier: CA2320961061

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7524845_7524846delinsTC , CM000681.2:g.7524845_7524846delinsTC	GRCh38
NC_000019.9:g.7589731_7589732delinsTC , CM000681.1:g.7589731_7589732delinsTC	GRCh37
NC_000019.8:g.7495731_7495732delinsTC	NCBI36
NG_015806.1:g.7236_7237delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.32-116_32-115delinsTC MANE Select	ENSP00000264079.5:n.32-116_32-115delinsTC
ENST00000264079.10:c.32-116_32-115delinsTC	ENSP00000264079.5:n.32-116_32-115delinsTC
ENST00000394321.9:n.112-116_112-115delinsTC
ENST00000596390.1:n.148-116_148-115delinsTC
ENST00000601003.1:c.32-116_32-115delinsTC	ENSP00000469074.1:n.32-116_32-115delinsTC
NM_020533.2:c.32-116_32-115delinsTC	NP_065394.1:n.32-116_32-115delinsTC
XR_936293.1:n.109_110delinsGA
XR_936294.1:n.109_110delinsGA
XR_936295.1:n.109_110delinsGA
XR_936293.2:n.135_136delinsGA
XR_936294.2:n.135_136delinsGA
NM_020533.3:c.32-116_32-115delinsTC MANE Select	NP_065394.1:n.32-116_32-115delinsTC