Canonical Allele Identifier: CA2320961189

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7525198_7525208delinsAGGCCACCTGT , CM000681.2:g.7525198_7525208delinsAGGCCACCTGT	GRCh38
NC_000019.9:g.7590084_7590094delinsAGGCCACCTGT , CM000681.1:g.7590084_7590094delinsAGGCCACCTGT	GRCh37
NC_000019.8:g.7496084_7496094delinsAGGCCACCTGT	NCBI36
NG_015806.1:g.7589_7599delinsAGGCCACCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.237+32_237+42delinsAGGCCACCTGT MANE Select	ENSP00000264079.5:n.237+32_237+42delinsAGGCCACCTGT
ENST00000264079.10:c.237+32_237+42delinsAGGCCACCTGT	ENSP00000264079.5:n.237+32_237+42delinsAGGCCACCTGT
ENST00000394321.9:n.317+32_317+42delinsAGGCCACCTGT
ENST00000596390.1:n.385_395delinsAGGCCACCTGT
ENST00000601003.1:c.237+32_237+42delinsAGGCCACCTGT	ENSP00000469074.1:n.237+32_237+42delinsAGGCCACCTGT
NM_020533.2:c.237+32_237+42delinsAGGCCACCTGT	NP_065394.1:n.237+32_237+42delinsAGGCCACCTGT
NM_020533.3:c.237+32_237+42delinsAGGCCACCTGT MANE Select	NP_065394.1:n.237+32_237+42delinsAGGCCACCTGT