Canonical Allele Identifier: CA2320962492

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527761_7527762delinsTC , CM000681.2:g.7527761_7527762delinsTC	GRCh38
NC_000019.9:g.7592647_7592648delinsTC , CM000681.1:g.7592647_7592648delinsTC	GRCh37
NC_000019.8:g.7498647_7498648delinsTC	NCBI36
NG_015806.1:g.10152_10153delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.681-103_681-102delinsTC MANE Select	ENSP00000264079.5:n.681-103_681-102delinsTC
ENST00000264079.10:c.681-103_681-102delinsTC	ENSP00000264079.5:n.681-103_681-102delinsTC
ENST00000394321.9:n.893_894delinsTC
ENST00000598406.1:n.634_635delinsTC
ENST00000601003.1:c.572-103_572-102delinsTC	ENSP00000469074.1:n.572-103_572-102delinsTC
NM_020533.2:c.681-103_681-102delinsTC	NP_065394.1:n.681-103_681-102delinsTC
NM_020533.3:c.681-103_681-102delinsTC MANE Select	NP_065394.1:n.681-103_681-102delinsTC