Canonical Allele Identifier: CA2320965027

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533142_7533143delinsCA , CM000681.2:g.7533142_7533143delinsCA	GRCh38
NC_000019.9:g.7598028_7598029delinsCA , CM000681.1:g.7598028_7598029delinsCA	GRCh37
NC_000019.8:g.7504028_7504029delinsCA	NCBI36
NG_013374.1:g.3991_3992delinsCA
NG_015806.1:g.15533_15534delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1576-381_1576-380delinsCA MANE Select	ENSP00000264079.5:n.1576-381_1576-380delinsCA
ENST00000264079.10:c.1576-381_1576-380delinsCA	ENSP00000264079.5:n.1576-381_1576-380delinsCA
ENST00000394321.9:n.1891-381_1891-380delinsCA
ENST00000599334.1:c.304-381_304-380delinsCA
NM_020533.2:c.1576-381_1576-380delinsCA	NP_065394.1:n.1576-381_1576-380delinsCA
NM_020533.3:c.1576-381_1576-380delinsCA MANE Select	NP_065394.1:n.1576-381_1576-380delinsCA