Canonical Allele Identifier: CA2559494694

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533689_7533690insACCTGCTTCCTTCACC , CM000681.2:g.7533689_7533690insACCTGCTTCCTTCACC	GRCh38
NC_000019.9:g.7598575_7598576insACCTGCTTCCTTCACC , CM000681.1:g.7598575_7598576insACCTGCTTCCTTCACC	GRCh37
NC_000019.8:g.7504575_7504576insACCTGCTTCCTTCACC	NCBI36
NG_013374.1:g.4538_4539insACCTGCTTCCTTCACC
NG_015806.1:g.16080_16081insACCTGCTTCCTTCACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1706+36_1706+37insACCTGCTTCCTTCACC MANE Select	ENSP00000264079.5:n.1706+36_1706+37insACCTGCTTCCTTCACC
ENST00000264079.10:c.1706+36_1706+37insACCTGCTTCCTTCACC	ENSP00000264079.5:n.1706+36_1706+37insACCTGCTTCCTTCACC
ENST00000394321.9:n.2021+36_2021+37insACCTGCTTCCTTCACC
ENST00000599334.1:c.434+36_434+37insACCTGCTTCCTTCACC
ENST00000601870.1:c.59+36_59+37insACCTGCTTCCTTCACC
ENST00000602227.1:n.260+36_260+37insACCTGCTTCCTTCACC
NM_020533.2:c.1706+36_1706+37insACCTGCTTCCTTCACC	NP_065394.1:n.1706+36_1706+37insACCTGCTTCCTTCACC
NM_020533.3:c.1706+36_1706+37insACCTGCTTCCTTCACC MANE Select	NP_065394.1:n.1706+36_1706+37insACCTGCTTCCTTCACC