Canonical Allele Identifier: CA2320961321
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525091_7525126delinsCAAGTTTCGAGCCAAGGGCCGCAAGCCCTGCAAGCT , CM000681.2:g.7525091_7525126delinsCAAGTTTCGAGCCAAGGGCCGCAAGCCCTGCAAGCT GRCh38
NC_000019.9:g.7589977_7590012delinsCAAGTTTCGAGCCAAGGGCCGCAAGCCCTGCAAGCT , CM000681.1:g.7589977_7590012delinsCAAGTTTCGAGCCAAGGGCCGCAAGCCCTGCAAGCT GRCh37
NC_000019.8:g.7495977_7496012delinsCAAGTTTCGAGCCAAGGGCCGCAAGCCCTGCAAGCT NCBI36
NG_015806.1:g.7482_7517delinsCAAGTTTCGAGCCAAGGGCCGCAAGCCCTGCAAGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.162_197delinsCAAGTTTCGAGCCAAGGGCCGCAAGCCCTGCAAGCT MANE Select ENSP00000264079.5:p.Asp54=
ENST00000264079.10:c.162_197delinsCAAGTTTCGAGCCAAGGGCCGCAAGCCCTGCAAGCT ENSP00000264079.5:p.Asp54=
ENST00000394321.9:n.242_277delinsCAAGTTTCGAGCCAAGGGCCGCAAGCCCTGCAAGCT
ENST00000596390.1:n.278_313delinsCAAGTTTCGAGCCAAGGGCCGCAAGCCCTGCAAGCT
ENST00000601003.1:c.162_197delinsCAAGTTTCGAGCCAAGGGCCGCAAGCCCTGCAAGCT ENSP00000469074.1:p.Asp54=
NM_020533.2:c.162_197delinsCAAGTTTCGAGCCAAGGGCCGCAAGCCCTGCAAGCT NP_065394.1:p.Asp54=
NM_020533.3:c.162_197delinsCAAGTTTCGAGCCAAGGGCCGCAAGCCCTGCAAGCT MANE Select NP_065394.1:p.Asp54=
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