Canonical Allele Identifier: CA2587950505

Gene: MCOLN1 PNPLA6

Linked Data

• gnomAD v4: 19-7534003-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7534008del , CM000681.2:g.7534008del	GRCh38
NC_000019.9:g.7598894del , CM000681.1:g.7598894del	GRCh37
NC_000019.8:g.7504894del	NCBI36
NG_013374.1:g.4857del
NG_015806.1:g.16399del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.*213del (MCOLN1) MANE Select	ENSP00000264079.5:n.*213del
ENST00000221249.10:c.-427del (PNPLA6)	ENSP00000221249.5:n.-427del
ENST00000264079.10:c.*213del (MCOLN1)	ENSP00000264079.5:n.*213del
ENST00000601870.1:c.169+140del
NM_020533.2:c.*213del (MCOLN1)	NP_065394.1:n.*213del
NM_020533.3:c.*213del (MCOLN1) MANE Select	NP_065394.1:n.*213del