Canonical Allele Identifier: CA337722985
Gene: CASKP1 HGNC NCBI
MyVariant.info:
GRCh38 chrY:g.12946970A>G
gnomAD v3:
Y:12946970 A / G
gnomAD v4:
chrY-12946970-A-G
Joint Max Group AF 0.06612962 (MID)
Genomes Max Group AF 0.00334083 (NFE)
dbSNP:
9785956
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12946970A>G , CM000686.2:g.12946970A>G GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000412870.1:n.188-663T>C
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