Canonical Allele Identifier: CA2320963495

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529816_7529817delinsTC , CM000681.2:g.7529816_7529817delinsTC	GRCh38
NC_000019.9:g.7594702_7594703delinsTC , CM000681.1:g.7594702_7594703delinsTC	GRCh37
NC_000019.8:g.7500702_7500703delinsTC	NCBI36
NG_013374.1:g.665_666delinsTC
NG_015806.1:g.12207_12208delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1359+104_1359+105delinsTC MANE Select	ENSP00000264079.5:n.1359+104_1359+105delinsTC
ENST00000264079.10:c.1359+104_1359+105delinsTC	ENSP00000264079.5:n.1359+104_1359+105delinsTC
ENST00000394321.9:n.1674+104_1674+105delinsTC
ENST00000594692.1:n.355+104_355+105delinsTC
ENST00000595860.5:n.542+104_542+105delinsTC
ENST00000599334.1:c.236+104_236+105delinsTC
NM_020533.2:c.1359+104_1359+105delinsTC	NP_065394.1:n.1359+104_1359+105delinsTC
NM_020533.3:c.1359+104_1359+105delinsTC MANE Select	NP_065394.1:n.1359+104_1359+105delinsTC