Canonical Allele Identifier: CA2320963517

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529860_7529863delinsATTG , CM000681.2:g.7529860_7529863delinsATTG	GRCh38
NC_000019.9:g.7594746_7594749delinsATTG , CM000681.1:g.7594746_7594749delinsATTG	GRCh37
NC_000019.8:g.7500746_7500749delinsATTG	NCBI36
NG_013374.1:g.709_712delinsATTG
NG_015806.1:g.12251_12254delinsATTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1359+148_1359+151delinsATTG MANE Select	ENSP00000264079.5:n.1359+148_1359+151delinsATTG
ENST00000264079.10:c.1359+148_1359+151delinsATTG	ENSP00000264079.5:n.1359+148_1359+151delinsATTG
ENST00000394321.9:n.1674+148_1674+151delinsATTG
ENST00000594692.1:n.355+148_355+151delinsATTG
ENST00000595860.5:n.542+148_542+151delinsATTG
ENST00000599334.1:c.236+148_236+151delinsATTG
NM_020533.2:c.1359+148_1359+151delinsATTG	NP_065394.1:n.1359+148_1359+151delinsATTG
NM_020533.3:c.1359+148_1359+151delinsATTG MANE Select	NP_065394.1:n.1359+148_1359+151delinsATTG