Canonical Allele Identifier: CA2320965004

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533083_7533089delinsCCACAGA , CM000681.2:g.7533083_7533089delinsCCACAGA	GRCh38
NC_000019.9:g.7597969_7597975delinsCCACAGA , CM000681.1:g.7597969_7597975delinsCCACAGA	GRCh37
NC_000019.8:g.7503969_7503975delinsCCACAGA	NCBI36
NG_013374.1:g.3932_3938delinsCCACAGA
NG_015806.1:g.15474_15480delinsCCACAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1576-440_1576-434delinsCCACAGA MANE Select	ENSP00000264079.5:n.1576-440_1576-434delinsCCACAGA
ENST00000264079.10:c.1576-440_1576-434delinsCCACAGA	ENSP00000264079.5:n.1576-440_1576-434delinsCCACAGA
ENST00000394321.9:n.1891-440_1891-434delinsCCACAGA
ENST00000599334.1:c.304-440_304-434delinsCCACAGA
NM_020533.2:c.1576-440_1576-434delinsCCACAGA	NP_065394.1:n.1576-440_1576-434delinsCCACAGA
NM_020533.3:c.1576-440_1576-434delinsCCACAGA MANE Select	NP_065394.1:n.1576-440_1576-434delinsCCACAGA