Canonical Allele Identifier: CA993156616

Gene: MCOLN1

Linked Data

• dbSNP Id: rs2022714574
• gnomAD v3: 19-7533858-CTTAT-C
• gnomAD v4: 19-7533858-CTTAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533865_7533868del , CM000681.2:g.7533865_7533868del	GRCh38
NC_000019.9:g.7598751_7598754del , CM000681.1:g.7598751_7598754del	GRCh37
NC_000019.8:g.7504751_7504754del	NCBI36
NG_013374.1:g.4714_4717del
NG_015806.1:g.16256_16259del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.*70_*73del MANE Select	ENSP00000264079.5:n.*70_*73del
ENST00000264079.10:c.*70_*73del	ENSP00000264079.5:n.*70_*73del
ENST00000394321.9:n.2128_2131del
ENST00000599334.1:c.541_544del
ENST00000601870.1:c.166_169del
ENST00000602227.1:n.367_370del
NM_020533.2:c.*70_*73del	NP_065394.1:n.*70_*73del
NM_020533.3:c.*70_*73del MANE Select	NP_065394.1:n.*70_*73del