Canonical Allele Identifier: CA2320965602

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533861_7533862delinsAT , CM000681.2:g.7533861_7533862delinsAT	GRCh38
NC_000019.9:g.7598747_7598748delinsAT , CM000681.1:g.7598747_7598748delinsAT	GRCh37
NC_000019.8:g.7504747_7504748delinsAT	NCBI36
NG_013374.1:g.4710_4711delinsAT
NG_015806.1:g.16252_16253delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.*66_*67delinsAT MANE Select	ENSP00000264079.5:n.*66_*67delinsAT
ENST00000264079.10:c.*66_*67delinsAT	ENSP00000264079.5:n.*66_*67delinsAT
ENST00000394321.9:n.2124_2125delinsAT
ENST00000599334.1:c.537_538delinsAT
ENST00000601870.1:c.162_163delinsAT
ENST00000602227.1:n.363_364delinsAT
NM_020533.2:c.*66_*67delinsAT	NP_065394.1:n.*66_*67delinsAT
NM_020533.3:c.*66_*67delinsAT MANE Select	NP_065394.1:n.*66_*67delinsAT