Canonical Allele Identifier: CA2320965005

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533085_7533086delinsAC , CM000681.2:g.7533085_7533086delinsAC	GRCh38
NC_000019.9:g.7597971_7597972delinsAC , CM000681.1:g.7597971_7597972delinsAC	GRCh37
NC_000019.8:g.7503971_7503972delinsAC	NCBI36
NG_013374.1:g.3934_3935delinsAC
NG_015806.1:g.15476_15477delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1576-438_1576-437delinsAC MANE Select	ENSP00000264079.5:n.1576-438_1576-437delinsAC
ENST00000264079.10:c.1576-438_1576-437delinsAC	ENSP00000264079.5:n.1576-438_1576-437delinsAC
ENST00000394321.9:n.1891-438_1891-437delinsAC
ENST00000599334.1:c.304-438_304-437delinsAC
NM_020533.2:c.1576-438_1576-437delinsAC	NP_065394.1:n.1576-438_1576-437delinsAC
NM_020533.3:c.1576-438_1576-437delinsAC MANE Select	NP_065394.1:n.1576-438_1576-437delinsAC