Canonical Allele Identifier: CA2653280001
Gene: SPATA2 HGNC NCBI

Linked Data

gnomAD v4: 20-49905912-C-CCAGGCTGTCATGAGTCGAGGCCTTGCTGGGGAAGGCGCTGGGCTTGGAAGCTGGAGGACAGGTGAG
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49905923_49905988dup , CM000682.2:g.49905923_49905988dup GRCh38
NC_000020.10:g.48522460_48522525dup , CM000682.1:g.48522460_48522525dup GRCh37
NC_000020.9:g.47955867_47955932dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289431.10:c.1204_1269dup MANE Select ENSP00000289431.5:p.Leu423_Ala424insLeuThrCysProProAlaSerLysP...
ENST00000289431.9:c.1204_1269dup ENSP00000289431.5:p.Leu423_Ala424insLeuThrCysProProAlaSerLysP...
ENST00000422556.1:c.1204_1269dup ENSP00000416799.1:p.Leu423_Ala424insLeuThrCysProProAlaSerLysP...
NM_001135773.1:c.1204_1269dup NP_001129245.1:p.Leu423_Ala424insLeuThrCysProProAlaSerLysProS...
NM_006038.3:c.1204_1269dup NP_006029.1:p.Leu423_Ala424insLeuThrCysProProAlaSerLysProSerA...
XM_006723894.1:c.1204_1269dup XP_006723957.1:p.Leu423_Ala424insLeuThrCysProProAlaSerLysProS...
XM_011529116.1:c.1204_1269dup XP_011527418.1:p.Leu423_Ala424insLeuThrCysProProAlaSerLysProS...
NM_006038.4:c.1204_1269dup MANE Select NP_006029.1:p.Leu423_Ala424insLeuThrCysProProAlaSerLysProSerA...
NM_001135773.2:c.1204_1269dup NP_001129245.1:p.Leu423_Ala424insLeuThrCysProProAlaSerLysProS...
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