Canonical Allele Identifier: CA2538481335

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533661_7533662insTA , CM000681.2:g.7533661_7533662insTA	GRCh38
NC_000019.9:g.7598547_7598548insTA , CM000681.1:g.7598547_7598548insTA	GRCh37
NC_000019.8:g.7504547_7504548insTA	NCBI36
NG_013374.1:g.4510_4511insTA
NG_015806.1:g.16052_16053insTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000264079.11:c.1706+8_1706+9insTA MANE Select	ENSP00000264079.5:n.1706+8_1706+9insTA
ENST00000264079.10:c.1706+8_1706+9insTA	ENSP00000264079.5:n.1706+8_1706+9insTA
ENST00000394321.9:n.2021+8_2021+9insTA
ENST00000599334.1:c.434+8_434+9insTA
ENST00000601870.1:c.59+8_59+9insTA
ENST00000602227.1:n.260+8_260+9insTA
NM_020533.2:c.1706+8_1706+9insTA	NP_065394.1:n.1706+8_1706+9insTA
NM_020533.3:c.1706+8_1706+9insTA MANE Select	NP_065394.1:n.1706+8_1706+9insTA