Canonical Allele Identifier: CA342284
Gene: ASPM HGNC NCBI

Linked Data

ClinVar Variation Id: 21617
ClinVar RCV Id: RCV000020807
dbSNP Id: rs199422180

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197100743_197100744del , CM000663.2:g.197100743_197100744del GRCh38
NC_000001.10:g.197069873_197069874del , CM000663.1:g.197069873_197069874del GRCh37
NC_000001.9:g.195336496_195336497del NCBI36
NG_015867.1:g.50952_50953del

Transcript Alleles

HGVS Amino-acid change
ENST00000367408.6:n.2108-4579_2108-4578del
ENST00000367409.9:c.8508_8509del MANE Select ENSP00000356379.4:p.Lys2837MetfsTer?
ENST00000680265.1:c.8508_8509del ENSP00000505384.1:p.Lys2837MetfsTer?
ENST00000680710.1:c.8508_8509del ENSP00000506676.1:p.Lys2837MetfsTer?
ENST00000294732.11:c.4066-4579_4066-4578del ENSP00000294732.7:n.4066-4579_4066-4578de...
ENST00000367408.5:c.1816-4579_1816-4578del ENSP00000356378.1:n.1816-4579_1816-4578de...
ENST00000367409.8:c.8508_8509del ENSP00000356379.4:p.Lys2837MetfsTer?
ENST00000612785.1:c.2466_2467del ENSP00000479244.1:p.Lys823MetfsTer?
NM_001206846.1:c.4066-4579_4066-4578del NP_001193775.1:n.4066-4579_4066-4578del
NM_018136.4:c.8508_8509del NP_060606.3:p.Lys2837MetfsTer?
NM_018136.5:c.8508_8509del MANE Select NP_060606.3:p.Lys2837MetfsTer?
NM_001206846.2:c.4066-4579_4066-4578del NP_001193775.1:n.4066-4579_4066-4578del