Canonical Allele Identifier: CA2693322402
Gene: SAT1 HGNC NCBI

Linked Data

gnomAD v4: X-23783380-C-CT
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.23783381dup , CM000685.2:g.23783381dup GRCh38
NC_000023.10:g.23801498dup , CM000685.1:g.23801498dup GRCh37
NC_000023.9:g.23711419dup NCBI36
NG_012929.1:g.5224dup

Transcript Alleles

HGVS Amino-acid change
ENST00000379270.5:c.30dup MANE Select ENSP00000368572.4:p.Ala11CysfsTer6
ENST00000379251.7:c.30dup ENSP00000368553.3:p.Ala11CysfsTer6
ENST00000379253.7:c.30dup ENSP00000368555.3:p.Ala11CysfsTer6
ENST00000379254.5:c.30dup ENSP00000368556.1:p.Ala11CysfsTer6
ENST00000379270.4:c.30dup ENSP00000368572.4:p.Ala11CysfsTer6
ENST00000463236.5:n.45dup
ENST00000489394.5:n.185dup
NM_002970.3:c.30dup NP_002961.1:p.Ala11CysfsTer6
NR_027783.2:n.224dup
XM_024452421.1:c.-1310dup XP_024308189.1:n.-1310dup
NM_002970.4:c.30dup MANE Select NP_002961.1:p.Ala11CysfsTer6
NR_027783.3:n.209dup
Search 100 bp 5'
Search 100 bp 3'