Canonical Allele Identifier: CA2320963626

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7530032_7530064delinsACCCGGCCATTCACGTGGGACCCCAGCCTGGGT , CM000681.2:g.7530032_7530064delinsACCCGGCCATTCACGTGGGACCCCAGCCTGGGT	GRCh38
NC_000019.9:g.7594918_7594950delinsACCCGGCCATTCACGTGGGACCCCAGCCTGGGT , CM000681.1:g.7594918_7594950delinsACCCGGCCATTCACGTGGGACCCCAGCCTGGGT	GRCh37
NC_000019.8:g.7500918_7500950delinsACCCGGCCATTCACGTGGGACCCCAGCCTGGGT	NCBI36
NG_013374.1:g.881_913delinsACCCGGCCATTCACGTGGGACCCCAGCCTGGGT
NG_015806.1:g.12423_12455delinsACCCGGCCATTCACGTGGGACCCCAGCCTGGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1360-254_1360-222delinsACCCGGCCATTCACGTGGGACCCCAGCCTGGGT MANE Select	ENSP00000264079.5:n.1360-254_1360-222delinsACCCGGCCATTCACGTGG...
ENST00000264079.10:c.1360-254_1360-222delinsACCCGGCCATTCACGTGGGACCCCAGCCTGGGT	ENSP00000264079.5:n.1360-254_1360-222delinsACCCGGCCATTCACGTGG...
ENST00000394321.9:n.1675-254_1675-222delinsACCCGGCCATTCACGTGGGACCCCAGCCTGGGT
ENST00000594692.1:n.356-254_356-222delinsACCCGGCCATTCACGTGGGACCCCAGCCTGGGT
ENST00000595860.5:n.543-254_543-222delinsACCCGGCCATTCACGTGGGACCCCAGCCTGGGT
ENST00000599334.1:c.236+320_236+352delinsACCCGGCCATTCACGTGGGACCCCAGCCTGGGT
NM_020533.2:c.1360-254_1360-222delinsACCCGGCCATTCACGTGGGACCCCAGCCTGGGT	NP_065394.1:n.1360-254_1360-222delinsACCCGGCCATTCACGTGGGACCCC...
NM_020533.3:c.1360-254_1360-222delinsACCCGGCCATTCACGTGGGACCCCAGCCTGGGT MANE Select	NP_065394.1:n.1360-254_1360-222delinsACCCGGCCATTCACGTGGGACCCC...