Canonical Allele Identifier: CA2609589036

Gene: PSAP

Linked Data

• gnomAD v4: 10-71834388-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71834391dup , CM000672.2:g.71834391dup	GRCh38
NC_000010.10:g.73594148dup , CM000672.1:g.73594148dup	GRCh37
NC_000010.9:g.73264154dup	NCBI36
NG_009301.1:g.21937dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.157dup MANE Select	ENSP00000378394.3:p.Trp53LeufsTer23
ENST00000394934.4:c.157dup	ENSP00000378392.2:p.Trp53LeufsTer23
ENST00000394936.7:c.157dup	ENSP00000378394.3:p.Trp53LeufsTer23
ENST00000610929.3:c.157dup	ENSP00000480857.1:p.Trp53LeufsTer23
NM_001042465.1:c.157dup	NP_001035930.1:p.Trp53LeufsTer23
NM_001042466.1:c.157dup	NP_001035931.1:p.Trp53LeufsTer23
NM_002778.2:c.157dup	NP_002769.1:p.Trp53LeufsTer23
NM_001042465.2:c.157dup	NP_001035930.1:p.Trp53LeufsTer23
NM_001042466.2:c.157dup	NP_001035931.1:p.Trp53LeufsTer23
NM_002778.3:c.157dup	NP_002769.1:p.Trp53LeufsTer23
NM_002778.4:c.157dup MANE Select	NP_002769.1:p.Trp53LeufsTer23
NM_001042465.3:c.157dup	NP_001035930.1:p.Trp53LeufsTer23
NM_001042466.3:c.157dup	NP_001035931.1:p.Trp53LeufsTer23