Canonical Allele Identifier: CA2320962441

Gene: MCOLN1

Linked Data

• dbSNP Id: rs2022592091

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527693_7527694insTACTCTCACACTA , CM000681.2:g.7527693_7527694insTACTCTCACACTA	GRCh38
NC_000019.9:g.7592579_7592580insTACTCTCACACTA , CM000681.1:g.7592579_7592580insTACTCTCACACTA	GRCh37
NC_000019.8:g.7498579_7498580insTACTCTCACACTA	NCBI36
NG_015806.1:g.10084_10085insTACTCTCACACTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.680+65_680+66insTACTCTCACACTA MANE Select	ENSP00000264079.5:n.680+65_680+66insTACTCTCACACTA
ENST00000264079.10:c.680+65_680+66insTACTCTCACACTA	ENSP00000264079.5:n.680+65_680+66insTACTCTCACACTA
ENST00000394321.9:n.825_826insTACTCTCACACTA
ENST00000598406.1:n.566_567insTACTCTCACACTA
ENST00000601003.1:c.572-171_572-170insTACTCTCACACTA	ENSP00000469074.1:n.572-171_572-170insTACTCTCACACTA
NM_020533.2:c.680+65_680+66insTACTCTCACACTA	NP_065394.1:n.680+65_680+66insTACTCTCACACTA
NM_020533.3:c.680+65_680+66insTACTCTCACACTA MANE Select	NP_065394.1:n.680+65_680+66insTACTCTCACACTA