Canonical Allele Identifier: CA15911562
Gene: SHISA6 HGNC NCBI
COSMIC:
COSN6649626 (not active)
MyVariant.info:
GRCh38 chr17:g.11504584G>A
GRCh37 chr17:g.11407901G>A
gnomAD v2:
17:11407901 G / A
gnomAD v3:
17:11504584 G / A
gnomAD v4:
chr17-11504584-G-A
Joint Max Group AF 0.49440666 (EAS)
Genomes Max Group AF 0.49440666 (EAS)
dbSNP:
2969180
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.11504584G>A , CM000679.2:g.11504584G>A GRCh38
NC_000017.10:g.11407901G>A , CM000679.1:g.11407901G>A GRCh37
NC_000017.9:g.11348626G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000441885.8:c.896-47312G>A MANE Select ENSP00000390084.3:n.896-47312G>A
ENST00000409168.7:c.800-51156G>A ENSP00000387157.3:n.800-51156G>A
ENST00000432116.7:c.896-51156G>A ENSP00000388659.3:n.896-51156G>A
ENST00000441885.7:c.896-47312G>A ENSP00000390084.3:n.896-47312G>A
NM_001173461.1:c.800-51156G>A NP_001166932.1:n.800-51156G>A
NM_001173462.1:c.896-51156G>A NP_001166933.1:n.896-51156G>A
NM_207386.3:c.896-47312G>A NP_997269.2:n.896-47312G>A
XM_017024618.1:c.800-47312G>A XP_016880107.1:n.800-47312G>A
NM_001173462.2:c.896-51156G>A NP_001166933.1:n.896-51156G>A
NM_207386.4:c.896-47312G>A MANE Select NP_997269.2:n.896-47312G>A
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