Canonical Allele Identifier: CA2320961880

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7526647_7526683delinsAGGTGGGCGGGCAGGTGCAGTTGGGCGGGCAGGTGCT , CM000681.2:g.7526647_7526683delinsAGGTGGGCGGGCAGGTGCAGTTGGGCGGGCAGGTGCT	GRCh38
NC_000019.9:g.7591533_7591569delinsAGGTGGGCGGGCAGGTGCAGTTGGGCGGGCAGGTGCT , CM000681.1:g.7591533_7591569delinsAGGTGGGCGGGCAGGTGCAGTTGGGCGGGCAGGTGCT	GRCh37
NC_000019.8:g.7497533_7497569delinsAGGTGGGCGGGCAGGTGCAGTTGGGCGGGCAGGTGCT	NCBI36
NG_015806.1:g.9038_9074delinsAGGTGGGCGGGCAGGTGCAGTTGGGCGGGCAGGTGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.405+41_406-78delinsAGGTGGGCGGGCAGGTGCAGTTGGGCGGGCAGGTGCT MANE Select	ENSP00000264079.5:n.405+41_406-78delinsAGGTGGGCGGGCAGGTGCAGTT...
ENST00000264079.10:c.405+41_406-78delinsAGGTGGGCGGGCAGGTGCAGTTGGGCGGGCAGGTGCT	ENSP00000264079.5:n.405+41_406-78delinsAGGTGGGCGGGCAGGTGCAGTT...
ENST00000394321.9:n.485+41_486-78delinsAGGTGGGCGGGCAGGTGCAGTTGGGCGGGCAGGTGCT
ENST00000596008.1:n.367+41_368-78delinsAGGTGGGCGGGCAGGTGCAGTTGGGCGGGCAGGTGCT
ENST00000598406.1:n.226+41_227-78delinsAGGTGGGCGGGCAGGTGCAGTTGGGCGGGCAGGTGCT
ENST00000601003.1:c.405+41_406-78delinsAGGTGGGCGGGCAGGTGCAGTTGGGCGGGCAGGTGCT	ENSP00000469074.1:n.405+41_406-78delinsAGGTGGGCGGGCAGGTGCAGTT...
NM_020533.2:c.405+41_406-78delinsAGGTGGGCGGGCAGGTGCAGTTGGGCGGGCAGGTGCT	NP_065394.1:n.405+41_406-78delinsAGGTGGGCGGGCAGGTGCAGTTGGGCGG...
NM_020533.3:c.405+41_406-78delinsAGGTGGGCGGGCAGGTGCAGTTGGGCGGGCAGGTGCT MANE Select	NP_065394.1:n.405+41_406-78delinsAGGTGGGCGGGCAGGTGCAGTTGGGCGG...