Canonical Allele Identifier: CA2320963715

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7530164_7530184delinsGGCCATTCATGTGGGGCCCCA , CM000681.2:g.7530164_7530184delinsGGCCATTCATGTGGGGCCCCA	GRCh38
NC_000019.9:g.7595050_7595070delinsGGCCATTCATGTGGGGCCCCA , CM000681.1:g.7595050_7595070delinsGGCCATTCATGTGGGGCCCCA	GRCh37
NC_000019.8:g.7501050_7501070delinsGGCCATTCATGTGGGGCCCCA	NCBI36
NG_013374.1:g.1013_1033delinsGGCCATTCATGTGGGGCCCCA
NG_015806.1:g.12555_12575delinsGGCCATTCATGTGGGGCCCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1360-122_1360-102delinsGGCCATTCATGTGGGGCCCCA MANE Select	ENSP00000264079.5:n.1360-122_1360-102delinsGGCCATTCATGTGGGGCC...
ENST00000264079.10:c.1360-122_1360-102delinsGGCCATTCATGTGGGGCCCCA	ENSP00000264079.5:n.1360-122_1360-102delinsGGCCATTCATGTGGGGCC...
ENST00000394321.9:n.1675-122_1675-102delinsGGCCATTCATGTGGGGCCCCA
ENST00000594692.1:n.356-122_356-102delinsGGCCATTCATGTGGGGCCCCA
ENST00000595860.5:n.543-122_543-102delinsGGCCATTCATGTGGGGCCCCA
ENST00000599334.1:c.237-271_237-251delinsGGCCATTCATGTGGGGCCCCA
NM_020533.2:c.1360-122_1360-102delinsGGCCATTCATGTGGGGCCCCA	NP_065394.1:n.1360-122_1360-102delinsGGCCATTCATGTGGGGCCCCA
NM_020533.3:c.1360-122_1360-102delinsGGCCATTCATGTGGGGCCCCA MANE Select	NP_065394.1:n.1360-122_1360-102delinsGGCCATTCATGTGGGGCCCCA