Canonical Allele Identifier: CA2320965575

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533839_7533840delinsAC , CM000681.2:g.7533839_7533840delinsAC	GRCh38
NC_000019.9:g.7598725_7598726delinsAC , CM000681.1:g.7598725_7598726delinsAC	GRCh37
NC_000019.8:g.7504725_7504726delinsAC	NCBI36
NG_013374.1:g.4688_4689delinsAC
NG_015806.1:g.16230_16231delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.*44_*45delinsAC MANE Select	ENSP00000264079.5:n.*44_*45delinsAC
ENST00000264079.10:c.*44_*45delinsAC	ENSP00000264079.5:n.*44_*45delinsAC
ENST00000394321.9:n.2102_2103delinsAC
ENST00000599334.1:c.515_516delinsAC
ENST00000601870.1:c.140_141delinsAC
ENST00000602227.1:n.341_342delinsAC
NM_020533.2:c.*44_*45delinsAC	NP_065394.1:n.*44_*45delinsAC
NM_020533.3:c.*44_*45delinsAC MANE Select	NP_065394.1:n.*44_*45delinsAC