Canonical Allele Identifier: CA2320965552

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533800_7533801delinsAC , CM000681.2:g.7533800_7533801delinsAC	GRCh38
NC_000019.9:g.7598686_7598687delinsAC , CM000681.1:g.7598686_7598687delinsAC	GRCh37
NC_000019.8:g.7504686_7504687delinsAC	NCBI36
NG_013374.1:g.4649_4650delinsAC
NG_015806.1:g.16191_16192delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.*5_*6delinsAC MANE Select	ENSP00000264079.5:n.*5_*6delinsAC
ENST00000264079.10:c.*5_*6delinsAC	ENSP00000264079.5:n.*5_*6delinsAC
ENST00000394321.9:n.2063_2064delinsAC
ENST00000599334.1:c.476_477delinsAC
ENST00000601870.1:c.101_102delinsAC
ENST00000602227.1:n.302_303delinsAC
NM_020533.2:c.*5_*6delinsAC	NP_065394.1:n.*5_*6delinsAC
NM_020533.3:c.*5_*6delinsAC MANE Select	NP_065394.1:n.*5_*6delinsAC