Canonical Allele Identifier: CA2514340504

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533856_7533857insCTGCAGCCTTCTCTGCT , CM000681.2:g.7533856_7533857insCTGCAGCCTTCTCTGCT	GRCh38
NC_000019.9:g.7598742_7598743insCTGCAGCCTTCTCTGCT , CM000681.1:g.7598742_7598743insCTGCAGCCTTCTCTGCT	GRCh37
NC_000019.8:g.7504742_7504743insCTGCAGCCTTCTCTGCT	NCBI36
NG_013374.1:g.4705_4706insCTGCAGCCTTCTCTGCT
NG_015806.1:g.16247_16248insCTGCAGCCTTCTCTGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.*61_*62insCTGCAGCCTTCTCTGCT MANE Select	ENSP00000264079.5:n.*61_*62insCTGCAGCCTTCTCTGCT
ENST00000264079.10:c.*61_*62insCTGCAGCCTTCTCTGCT	ENSP00000264079.5:n.*61_*62insCTGCAGCCTTCTCTGCT
ENST00000394321.9:n.2119_2120insCTGCAGCCTTCTCTGCT
ENST00000599334.1:c.532_533insCTGCAGCCTTCTCTGCT
ENST00000601870.1:c.157_158insCTGCAGCCTTCTCTGCT
ENST00000602227.1:n.358_359insCTGCAGCCTTCTCTGCT
NM_020533.2:c.*61_*62insCTGCAGCCTTCTCTGCT	NP_065394.1:n.*61_*62insCTGCAGCCTTCTCTGCT
NM_020533.3:c.*61_*62insCTGCAGCCTTCTCTGCT MANE Select	NP_065394.1:n.*61_*62insCTGCAGCCTTCTCTGCT