Canonical Allele Identifier: CA2639297902
Gene: PSMC5 HGNC NCBI

Linked Data

gnomAD v4: 17-63832013-C-CCAAGT
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63832015_63832019dup , CM000679.2:g.63832015_63832019dup GRCh38
NC_000017.10:g.61909375_61909379dup , CM000679.1:g.61909375_61909379dup GRCh37
NC_000017.9:g.59263107_59263111dup NCBI36
NG_053004.1:g.15974_15978dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000375812.8:c.*46_*50dup ENSP00000364970.4:n.*46_*50dup
NM_001199163.1:c.*46_*50dup NP_001186092.1:n.*46_*50dup
NM_002805.5:c.*46_*50dup NP_002796.4:n.*46_*50dup
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