Canonical Allele Identifier: CA2320962518

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527815_7527825delinsGGAAGGGACCC , CM000681.2:g.7527815_7527825delinsGGAAGGGACCC	GRCh38
NC_000019.9:g.7592701_7592711delinsGGAAGGGACCC , CM000681.1:g.7592701_7592711delinsGGAAGGGACCC	GRCh37
NC_000019.8:g.7498701_7498711delinsGGAAGGGACCC	NCBI36
NG_015806.1:g.10206_10216delinsGGAAGGGACCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.681-49_681-39delinsGGAAGGGACCC MANE Select	ENSP00000264079.5:n.681-49_681-39delinsGGAAGGGACCC
ENST00000264079.10:c.681-49_681-39delinsGGAAGGGACCC	ENSP00000264079.5:n.681-49_681-39delinsGGAAGGGACCC
ENST00000394321.9:n.947_957delinsGGAAGGGACCC
ENST00000601003.1:c.572-49_572-39delinsGGAAGGGACCC	ENSP00000469074.1:n.572-49_572-39delinsGGAAGGGACCC
NM_020533.2:c.681-49_681-39delinsGGAAGGGACCC	NP_065394.1:n.681-49_681-39delinsGGAAGGGACCC
NM_020533.3:c.681-49_681-39delinsGGAAGGGACCC MANE Select	NP_065394.1:n.681-49_681-39delinsGGAAGGGACCC