Canonical Allele Identifier: CA2587949985

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7529854-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529854_7529855insA , CM000681.2:g.7529854_7529855insA	GRCh38
NC_000019.9:g.7594740_7594741insA , CM000681.1:g.7594740_7594741insA	GRCh37
NC_000019.8:g.7500740_7500741insA	NCBI36
NG_013374.1:g.703_704insA
NG_015806.1:g.12245_12246insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1359+142_1359+143insA MANE Select	ENSP00000264079.5:n.1359+142_1359+143insA
ENST00000264079.10:c.1359+142_1359+143insA	ENSP00000264079.5:n.1359+142_1359+143insA
ENST00000394321.9:n.1674+142_1674+143insA
ENST00000594692.1:n.355+142_355+143insA
ENST00000595860.5:n.542+142_542+143insA
ENST00000599334.1:c.236+142_236+143insA
NM_020533.2:c.1359+142_1359+143insA	NP_065394.1:n.1359+142_1359+143insA
NM_020533.3:c.1359+142_1359+143insA MANE Select	NP_065394.1:n.1359+142_1359+143insA