Canonical Allele Identifier: CA2320965090

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533277_7533284delinsGTGCTGGA , CM000681.2:g.7533277_7533284delinsGTGCTGGA	GRCh38
NC_000019.9:g.7598163_7598170delinsGTGCTGGA , CM000681.1:g.7598163_7598170delinsGTGCTGGA	GRCh37
NC_000019.8:g.7504163_7504170delinsGTGCTGGA	NCBI36
NG_013374.1:g.4126_4133delinsGTGCTGGA
NG_015806.1:g.15668_15675delinsGTGCTGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1576-246_1576-239delinsGTGCTGGA MANE Select	ENSP00000264079.5:n.1576-246_1576-239delinsGTGCTGGA
ENST00000264079.10:c.1576-246_1576-239delinsGTGCTGGA	ENSP00000264079.5:n.1576-246_1576-239delinsGTGCTGGA
ENST00000394321.9:n.1891-246_1891-239delinsGTGCTGGA
ENST00000599334.1:c.304-246_304-239delinsGTGCTGGA
NM_020533.2:c.1576-246_1576-239delinsGTGCTGGA	NP_065394.1:n.1576-246_1576-239delinsGTGCTGGA
NM_020533.3:c.1576-246_1576-239delinsGTGCTGGA MANE Select	NP_065394.1:n.1576-246_1576-239delinsGTGCTGGA