Canonical Allele Identifier: CA2320960995

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7524701_7524711delinsAGAGAGCTGGT , CM000681.2:g.7524701_7524711delinsAGAGAGCTGGT	GRCh38
NC_000019.9:g.7589587_7589597delinsAGAGAGCTGGT , CM000681.1:g.7589587_7589597delinsAGAGAGCTGGT	GRCh37
NC_000019.8:g.7495587_7495597delinsAGAGAGCTGGT	NCBI36
NG_015806.1:g.7092_7102delinsAGAGAGCTGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.32-260_32-250delinsAGAGAGCTGGT MANE Select	ENSP00000264079.5:n.32-260_32-250delinsAGAGAGCTGGT
ENST00000264079.10:c.32-260_32-250delinsAGAGAGCTGGT	ENSP00000264079.5:n.32-260_32-250delinsAGAGAGCTGGT
ENST00000394321.9:n.112-260_112-250delinsAGAGAGCTGGT
ENST00000596390.1:n.148-260_148-250delinsAGAGAGCTGGT
ENST00000601003.1:c.32-260_32-250delinsAGAGAGCTGGT	ENSP00000469074.1:n.32-260_32-250delinsAGAGAGCTGGT
NM_020533.2:c.32-260_32-250delinsAGAGAGCTGGT	NP_065394.1:n.32-260_32-250delinsAGAGAGCTGGT
XR_936293.1:n.244_254delinsACCAGCTCTCT
XR_936294.1:n.244_254delinsACCAGCTCTCT
XR_936295.1:n.154+90_154+100delinsACCAGCTCTCT
XR_936293.2:n.270_280delinsACCAGCTCTCT
XR_936294.2:n.270_280delinsACCAGCTCTCT
NM_020533.3:c.32-260_32-250delinsAGAGAGCTGGT MANE Select	NP_065394.1:n.32-260_32-250delinsAGAGAGCTGGT