Canonical Allele Identifier: CA2320965662

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533982_7533983delinsGA , CM000681.2:g.7533982_7533983delinsGA	GRCh38
NC_000019.9:g.7598868_7598869delinsGA , CM000681.1:g.7598868_7598869delinsGA	GRCh37
NC_000019.8:g.7504868_7504869delinsGA	NCBI36
NG_013374.1:g.4831_4832delinsGA
NG_015806.1:g.16373_16374delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.*187_*188delinsGA MANE Select	ENSP00000264079.5:n.*187_*188delinsGA
ENST00000264079.10:c.*187_*188delinsGA	ENSP00000264079.5:n.*187_*188delinsGA
ENST00000394321.9:n.2245_2246delinsGA
ENST00000599334.1:c.658_659delinsGA
ENST00000601870.1:c.169+114_169+115delinsGA
ENST00000602227.1:n.484_485delinsGA
NM_020533.2:c.*187_*188delinsGA	NP_065394.1:n.*187_*188delinsGA
NM_020533.3:c.*187_*188delinsGA MANE Select	NP_065394.1:n.*187_*188delinsGA