Canonical Allele Identifier: CA2320963505

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529835_7529836delinsAC , CM000681.2:g.7529835_7529836delinsAC	GRCh38
NC_000019.9:g.7594721_7594722delinsAC , CM000681.1:g.7594721_7594722delinsAC	GRCh37
NC_000019.8:g.7500721_7500722delinsAC	NCBI36
NG_013374.1:g.684_685delinsAC
NG_015806.1:g.12226_12227delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1359+123_1359+124delinsAC MANE Select	ENSP00000264079.5:n.1359+123_1359+124delinsAC
ENST00000264079.10:c.1359+123_1359+124delinsAC	ENSP00000264079.5:n.1359+123_1359+124delinsAC
ENST00000394321.9:n.1674+123_1674+124delinsAC
ENST00000594692.1:n.355+123_355+124delinsAC
ENST00000595860.5:n.542+123_542+124delinsAC
ENST00000599334.1:c.236+123_236+124delinsAC
NM_020533.2:c.1359+123_1359+124delinsAC	NP_065394.1:n.1359+123_1359+124delinsAC
NM_020533.3:c.1359+123_1359+124delinsAC MANE Select	NP_065394.1:n.1359+123_1359+124delinsAC